Yong Meng Hsien Lecturer & Ophthalmologist, UKM & HCTM, Malaysia yongmenghsien@ppukm.ukm.edu.my Last edited: Feb 202

1. Systemic Dz & Eyes
CTD (inflammatory)
Mucopolysaccharidosis
Metabolic dz/Endrocrine dz
Collagen/Skeletal CTD (non-inflammatory)
Dr Yong Meng Hsien
Lecturer & Ophthalmologist, UKM & HCTM
yongmenghsien@ppukm.ukm.edu.my
Last edited: Feb 2022

2. Systemic Disease & Eye
• Congenital/inherited
– Dystrophy, metabolic/storage, chromosomal, CTD/MSK (non inflam or inflam)
– Onset: birth, childhood, juvenile, or adulthood
• Acquired
– Degeneration, endocrine, metabolic/deposit, CTD (inflam), neuroophthalmic
• Neoplasm related
– Congenital VS acquired
– Malignancy mets/paraneoplastic
– Secondary changes- blood/flow disorder
• Drug-related
– Deposit, SE/toxicity
*Stable or progressive
* Treatable or not
* Predominant systemic dz- CNS/skin/skeletal/hemato
* Predominant ocular involvement- cornea/retina/ON, sclera/conj/orbit/TM

3. Inherited Disease & Eye
AD
• Phakomatoses- NF1/2 (chr17/22), TSC
(chr9/11), VHL (chr3)
• Corneal dystrophy (most, except
Macular/CHED 2 are AR)
• Fundus/VR dystrophy- Best,
Wagner/Stickler/FEVR
• Collagen/MSK- Marfan (chr15), MD (chr19),
Crouzon/Apert
• Dysgenesis: ARS, aniridia (some), juvenile
glaucoma
• blepharophimosis
AR
• Phakomatoses- ataxia telangiectasia (chr11)
• Corneal dystrophy- macula/CHED 2
• Fundus dystrophy- Stargardt (chr1), blue
cone/rod monochromatism, OC albinism,
gyrate atrophy, syndromic RP, Bietti, Oguchi.
Goldmann Favre
• Storage/metabolic diseases (most)- except
MPS II Hunter/Fabry/Lowe/Alport
• Dysgenesis: Peter (some) & aniridia (some)
Sporadic/non hereditary
● SWS, Wybun Mason
● Primary cong glaucoma (+- AR)
● Primary cong cataract 50% (+- AD 30%)
● PHPV
Mixed: Sporadic/AD/AR
● RB (chr13)
● RP
● Aniridia (chr11)- AD/sporadic
● Peter- sporadic >AR
Mitochondria
● LHON
● Mitochondrial myopathy/CPEO: Kearns-
Sayre/MIDD/MELAS/NARP
● Megalocornea
● MPS II (Hunter)
● Fabry disease
● Nance Horan
Mixed: Sporadic/AD/AR
● RB (chr13)
● RP/CSNB (AD good), Stargardt (AR most)
● Aniridia (chr11)- AD/sporadic (WAGR)
● Peter- sporadic >AR

4. Anatomical Approach

5. Orbit
CTD
• Wegener granulomatosis/GPA
– BL, a/w paranasal or primary (less)
• PAN
– pseudotumour
Endocrine/infiltration
• TED
• IgG4
• Sarcoidosis
• Amyloidosis

6. With dry eye/KCS
CTD
• Sjögren syndrome (SS) (primary/+RA/SLE)
– lymphocytic inflam @exocrine glands
– Triad: dry eyes/dry mouth/parotid gland enlargement
– primary or secondary (RA/SLE)
– Criteria: +ve anti-SSA/anti-SSB/RF+ANA, lymphocytic
sialadenitis, corneal staining
Endocrine
• DM/dysautonomia

7. With scleritis
CTD > rapidly progressive, necrotizing and granulomatous
• RA (most/inflam/vaso occlusive nevrotizing)
• RA scleromalacia perforans (non inflam/ arteriolar
occlusion)
• Wegener/GPA & PAN (>granulomatos necrotizing ant)
• RPC
Metabolic/MSK
• Uric acid (epi-/scleritis)
• Discoloration: black (alkaptouria), brown
(hemochromatosis), yellow (jaundice/bilirubin)
• Thining/blue: collagen (OI/Ehlers-D)

8. With cornea/PUK
CTD
• RA (most common)
– k/c/o RA → advanced → eye BL (30%)
– Variant: rheumatoid paracentral ulcerative
keratitis (PCUK)- punched-out lesion/little
infiltrate/quiet eye/rapid perforation + good
response to topical ciclosporin
• Wegener/GPA (second most)
– Eye as initial presentation in 50%.
• PAN/RPC/SLE

9. With cornea/IK
CTD
• Cogan Dz a/w PAN → IK
– Cogan dystrophy
• BL IK @young
• autoimmune vasculitis with vestibuloauditory
(deaf/tinnitus/vertigo), CTD, retinal vasculitis
• High ESR/CRP, inner ear Ag

10. with cornea- others
• Vortex K
–ABCDE
• Keratoconus
–collagen d/o (marfan/OI/ED)
• External surface deposit
–Metabolic/storage dz- CHO/lipid/AA/protein/
Ig/mineral/nucleotide

11. With uveitis
CTD/autoimmune
• HLA-B27/sero-ve spondyloarthropathies
(AS/psoriatic/reactive/Reiter/IBD/un#)
• RA/Wegener GPA/SLE/PAN/RPC

12. With vasculitis/occlusive phlebilitis
• RVO/RAO
– RA/antiphospholipid antibody syndrome
– factor V Leiden mutation
– SLE
– Wegener/GPA
– PAN
– Others: GCA
• Occlusive periphlebitis
– Wegener/GPA
– Cogan syndrome
– Others: Behçet, sarcoidosis

13. With retina/macula
• Premature PVD/RD/break
– Marfan/OI/ED/Stickler & Wagner
• Pigmentary retinopathy
– AR/AD/XL/Mitochondrial
– +deaf- Usher/Refsum/Alport/MIDD
– +neuromuscular- mitochondria-CPEO & KS/Charcot-Marie-
Tooth/MD/Batten/Zellweger
– Others: +renal (Bardet Biedl/Alstrom), +liver (Alagille), +GI
(FAP/Gardner-AD with CHRPE), +skin (ichythyosis@Refsum/PXE/IP)
– non specific: Leber LCA, other syndromic RP
• White pigment: abetalipoproteinemia/Vit A defieciency
• Cherry-red spot: metabolic/storage dz
• Foveal hypoplasia: Albinism, Down, Aniridia
• Malignancy: paraneoplastic/mets/blood abn

17. With ON
• retrobulbar neuritis or AION
• SLE/RA/antiphospholipid
• Glaucoma
• steroid SE for RX of CTD

18. With EOM
• Muscle:
– Brown syndrome/SO tightening (CTD esp RA)
– Mitochondria myopathy/CPEO
– MD
• NMJ:
– MG
– GBS
• Nerve/CN

19. Disease Based

20. Arthritis Disease
Classification
1.RF +ve: RA/sjogren/sarcoid/SLE/scleroderma,
PAN/GCA/wegener
RF -ve (HLA B27+ve) : AS/psoriatic/Reiter/IBD
ANA +ve: SLE/sjogren/scleroderma, RA 30%
2. MonoA: Reiter/early JIA/septic
PolyA: RA/SLE/JIA/psoriatic/sarcoid

21. RA- Eyes
▪ Dry eyes/Sjogren (2nd)
▪ Scleritis (most common/ vaso-occlusive)/ scleromalacia
perforans/ES
▪ Keratitis: PUK (most common), rheumatoid paracentral
ulcerative K (PCUK), stromal, sclerosing, keratolysis, furrow
▪ Uveitis
▪ Optic neuritis
▪ Acquired SO tendon sheath/Brown syndrome (very rare)
▪ venous statis/anemia retinopathy
▪ Steroid Cx: cataract/glaucoma

22. RA- Medical
• Intro: systemic autoimmune CTD mainly jt
• EpiD: >F//30-40s/>smoker, a/w HLA DR4
• PathoP: autoimmune inflam on con. tis >synovial/extra
articular/vessels/visceral
• SSx:
– ACR criteria: arthritis >6wk (persistent) with >2jt (poly)/sym/ morning
stiff/hands (1h/wrist/MCP/ PID) + nodule + RF 95%) + XR bone erosion
– Hand: Swan neck/Boutonniere/Z deform/Bouchard node/ulnar
deviate/nodule/spare DIP + wasting/p erythma + CTS (Tinel/Phalen
tests) → ROM/function → DAS 28 activity score
– LOW, spinal cord sublux >atlantoaxial, lung fibrosis, anemia/Felty
(neutropenia), pericarditis/MR/AR, HSM, venous ulcer
• Ix: US/XR jt/spine (erosion/jt space/OP), ESR/CRP/RF/ANA 30%/new →
anticitrullinated protein (for RF–ve RA)
• Mx: multidisciplinary/physio/rehab, DMARDs +-steroid/NSAIDs
(MTX/CSA/AZT/sulfasalazine/leflunomide/HCQ- last resort/biologic)
– If DMARDS x 2 → add biologic or 3rd DMARDS → add steroid (last)

23. Insp
- Comfortable
- Normal facial appearance
- No cushingoid facies
- Put hands on pillow/blanket (ask for pain)
- Observe hand in general- symmetrical jt deformity
- Observe all jt level: DIP/PIP/MCP/Wrist
(hyperflexion/ext/redness/nodule….)
- Observe palm: palmar erythema, muscle wasting
- Observe nail: no psoriatic nail- pitting
- Ask any pain → palpate all jt level (swelling/temp)
- Check ROM (all jt level)
- Check function (button/key turn/write)
- Check CTS (Tinel & Phalen)
- Check elbow/skin/back/hairline (psoriatic
plaque/rheumatoid nodule)
- Check eyes for AU/glaucoma/cataract/dry eyes
5 SYNDROMES….
• Sjogren syndrome (KCS + xerostomia(reduce salivary gland secretion)
• Carpal Tunnel Syndrome
• Felty syndrome (sero +ve RA + neutropenia + splenomegaly→ serious infection +
vasculitis)
• Kaplan syndrome
• Nephrotic syndrome

24. SLE- Eyes
• Dry eye/KCS/Sjogren (2nd)
• PUK
• Uveitis
• RAO
• Optic neuritis (retrobulbar)/AION
• SLE retinopathy
• HCQ toxicity
• Steroid toxicity

25. SLE- Medical
• systemic/autoimmune/CTD
• EpiD: >F/30-40s/>Asian/>pregnancy/FHx 10%
• SSx- Dx criteria (ORDER HIS ANA)
–oral ulcer/rash malar/discoid/exa photosensi
–renal/hemato/immuno/serositis/arthritis/neuro
–ANA (98% sensi) +- antiphospholipid/dsDNA/ESR
– extra: hand vasculitis
• Severe SLE= kidney & neuro
• Mx: NSAIDs/steroid → HCQ →
cyclophosphamide/AZT/rituximab
– MMF > maintenance

26. Wegener/GPA
• BL orbital inflammation (+- sinusitis)
• Dacryocystitis/NLDO
• Scleritis (>granulomatous/rapid)
• PUK (2nd most common aft RA)
• Uveitis
• RAO/occlusive periphlebitis
• Systemic: >M/>50s, a/w small vessel vasculitis
@sinuses/LRT/kidney
• Ocular presentation 1st in 50% cases
• Ix: cANCA (90%)
• Rx: cyclophosphamide and steroids > CSA/AZT

27. Relapsing polychondritis (RPC)
• Scleritis (granulomatous/+-necrotizing)
• PUK
• Uveitis (>ant)
* small vessel vasculitis + cartilage
Systemic: middle age, small vessels vasculitis
@cartilages @ears/respi/heart/joints

28. Polyarteritis nodosa (PAN)
• Orbital inflam/pseudotumour
• Scleritis (>granulomatous/rapid)
• PUK
• IK @ Cogan syndrome
• Occlusive retinal periarteritis
• Systemic: 30-60s, >F ?M (3:1) , medium &
small arteries vasculitis (aneurysm)
• ocular precedes systemic(years)
• Ix: hep B (33%), eosinophilia

29. HLA-B27/sero-ve spondyloarthropathies
• AS/psoriatic/reactive or Reiter/IBD/
undifferentiated
• Uveitis
• EpiD: >young male
• Systemic: FHx, enthesitis/spine/peripheral jt
–7A: AU/Atlantoaxial sublux/Apical lung
fibrosis/Aortic regur/Autoimmune IBD/Achilles
tendinitis/amyloidosis
• Ix: RF –ve, ESR/CRP/XR (square/bamboo spine)
• Mx: physio/NSAIDs/steroid → MTX/AZT/CSA

30. Systemic Sclerosis/Scleroderma
• systemic/autoimmune/small vasculopathy +
fibroblast dysfx
• SSx
– hand: puffy finger → sclerodactyly (skin thickening prox
to MCP!! Grade 1-3)
• digital ulcer/pitting scar/telangiectsia
• abn nailfold capillary, Raynaud
– CVS/lung: pul fibrosis (99%) → pul HPT
• Ix: RF/ANA +ve, SScAb +ve
• Mx: MTX (vs risk of lung fibrosis), steroid (vs renal
crisis- need low dose or fast taper), Cx Mx esp pul HPT

31. Pregnancy & Eyes
Retina
• DR/DME, CSCR, HPT eye dz (PE/E), Purtscher’s-like
(amniotic fluid embolism), CRAO (hypercoagulopathy/SLE)
Orbital
• uveal melanoma, orbital/choroidal hemangioma,
Grave/TED
Intracranial
• cerebral venous thrombosis, Sheehan’s (pituitary), CCF,
pituitary adenoma
• improve- MS/optic neuritis/sarcoidosis/SLE (⅓)

32. Others
• Churg Strauss
– eosinophilia

33. Metobolic/Storage Dz
• General: rare/AR (except MPS II/Fabry), enzyme
defect  accumulation/deposit
• Ix: clinical + enzyme assay/Bx + excess level
@urine/blood
• Mx: observe/PK if cornea (+recur)
• Types:
– CHO- MPS/DM
– Lipid- hyper/hypo-lipoproteinemia,
sphingolipodoses/mucolipodoses
– AA- cystinosis/tyrosinemia/alkaptonuria
– Protein/Ig- amyloidosis/MM/Waldenstrom
– Nucleotide: gout, prophyria
– Mineral: Wilson, Ca, iron

34. Mucopolysaccharidosis
• Systemic storage dz with lysosomal enzyme
deficiency (acid hydrolase) → GAG metabolism abn.
• Type 1H/1S/2/3/4/6
(Hurler/Scheie/Hunter/Sanfillippo/Morquio/Maroteaux)
– Corneal deposit: 1H/1S > 4/6 (none in 2/3)
– Retinal degeneration/pigment: 2/3 > 1H/1S (4/6 none)
– Optic atrophy: all esp 2 (Hunter)
• All AR except 2 (Hunter/XLR)
• Systemic: mental retardation, coarse facies, skeletal
abn, cardiac dz
• Mx: corneal PK, enzyme replacement T, BMT

35. DR & Eye
• Corneal
– dry eye/abrasions/SPK/epitheliopathy
– BM & DM changes, Waite-Beetham line @DM
– Neurotrophic, poor wound healing
• Anterior uveitis
• DR/DME/rubeosis/NVG
• Ocular ischemic syndrome
• Papillitis/AION
• Orbital/ocular infection
• Cranial nerve palsies

36. Metabolic Dz- AA
1. Cystinosis (AR)
– eye: fine polychromatic cystine crystal @conj/cornea
(peripheral/ant stroma)/TM/pig-ret/ON
– sys (3types)- nephropathic @infantile/@juvenile (dwarfism/less life
span, Fanconi w FTT/ricket/renal), non-nephropathic @adult (normal
life span)
– Rx: gutt/oral cysteamine
2. Tyrosinemia II- Richner Hauhart (AR)
– eye: recurrent keratitis/RCE/pseudodendritic (no stain)/scar +
papillary conj (DDX HSV-like @paeds)
– Sys: hyperkeratotic skin lesion + CNS/mental
– Rx: diet restrict on phenylalanine
3. Alkaptonuria (AR)  alkapton deposit =ochronosis
– eye: dark pigment @cornea (peripheral/epiT/Bowman)/EOM
tendon/sclera
– Sys: jt-tendon-bone/renal/heart valve/cartilage (ear/nose)

37. Metabolic Dz- Lipid
1. Hyperlipoproteinemia
– eye: xanthelasma/arcus <40yo/asym
2. Hypolipoproteinemia (low HDL/vit A-E low)
– hypo-/a-betalipoproteinemia (AR)
• Eye: white pig-ret
• Sys: RBC acanthocytosis
• Rx: Vit A & E supplement
– Bassen Kornzweig (RP-like)
3. Sphingolipidoses (galactosidase defect/high gangliosides)
– Fabry (XLR)
• Eye: cataract (post spoke)/vortex K/abn vessel @conj/retina/OD
• Sys: skin angiokeratoma/CKD/neuropathy
– Tay Sachs (GM2-I)/Sandhoff (GM2-II)/Niemann-Pick/GM1 gangliosidosis  all + CRS +
vortex K
• Tay Sachs: blind + CNS/early death 2-5yo
4. Mucolipidoses (MPS + lipidoses)
– Goldberg/Mannosidosis/fucosidosis  corneal cloud/CRS/pig-ret
5. Others
– Gaucher (glucosylceramide high): CRS + white pig ret + liver/spleen/LN/skin
– Refsum/Zellweger (peroxisomal d/o w phytanic acid excess): pig ret + optic A + CNS
– Neuronal ceroid lipofusinoses/Batten: retina/ON/Bull M + CNS (progressive)

38. Metabolic Dz- Protein
1. Amyloidosis
– 4 types: primary/secondary – localized/systemic
• Primary local (eye)- conj/cornea plaque, lattice CD 1& 3
• Primary sys (eye)- eyelid papule/vitreous veil/light-near dissociation
• Second local (eye)- d2 IK/RA/trachoma
• Second sys- d2 RA/brucellosis, no cornea involved
– Stain (Amyloid-BCDEF)
• Birefringence “apple green” birefringence on polarized light microscopy
• CV metachromasia, congo red
• Dichroism
• Electron microscope (filamentous)
• Fluorescence (UV + thioflavine T)
• nonbranching, rigid, and mostly extracellular insoluble fibrils
2. Ig (B lymphocyte/plasma cell d/o)
– Causes: multiple myeloma, Waldenstrom macroglobulinemia
– Excess M protein (light or heavy chain  deposit & hyperviscosity)
– Eye: crystalline cornea/conj +- copper deposit , orbital bone
invasion/proptosis, hyperviscosity retinopathy

39. Ocular Amyloidosis
• Tissues deposition of hyaline extracellular material
• adnexa, EOM, conjunctiva, cornea, lens and capsule,
anterior uvea and TM, vitreous and retina
• family history?
• SSx: lid malpositions, globe displacement, abnormal
motility, diplopia, ptosis, recurrent subconjunctival
hemorrhage, conjunctival mass, corneal opacity,
increased intraocular pressure (IOP), vitreous
opacities/floaters, and abnormal fundus

40. Metabolic- Mineral
• Wilson (hepato-lenticular degeneration)- AR (Chr13)/copper
– Eye: Kayser Fleisher ring @DM/start superior-lat-inf (90%, esp if CNS involved, need gonio /@SL if early), green
“sunflower” cataract, accommodation d/o (ciliary muscle deposit)
– Systemic: liver/kidney/CNS/BG (psy/parkinson-like)
– Ix: serum /urine copper high & serum ceruloplasmin low, liver Bx
– Rx: penicillamine, liver Tx
– DDX KF ring- liver d/o (biliary atresia/hepatitis/cirrhosis)
• Gout/hyperuricemia
– Eye: Sclera/episclera/conj inflam (acute), corneal deposit/band K
– Sys: jt & kidney
– Rx: acute (indomethacin/colchicine), long term (allopurinol)
• Prophyria (prophyrin frm heme)- AD/sporadic, a/w liver insult/damage
– Eye: conj interpalpebral leison/scar/symblepharon (OCP-like), scleritis, corneal-limbal perforation
– Sys: skin (pigment/scleroderma-like/ulcer)
– Ix: urine dark/blood/liver bx
– Mx: UV protection, sc desferrioxaime
• Ca/hypercalcemia- band K
• Iron/hemochromatosis- no corneal deposit
• Copper/siderosis- iris heterochromia
• Gold/chrysiasis- cornea deposit >deep, ASCC cataract, marginal K

43. MSK/non inflam CTD Dz
• Marfan
• EDS
• Stickler
• Pseudocanthoma elasticum
• Acromegaly

44. Marfan
• AD (15% sporadic)/Chr 15q21 (FBN1/fibrillin gene)
• Dx: + FHx + 2 features.
• MSK
– Arachnodactyly (long limb/finger/tall)
– Chest deformity/kypho-scoliosis
– Hyperflexibility
– Frontal bossing, high arch palate, hernia
• CVS
– Aorta: root/vessel dilatation, aneurysm
– Mitral valve: prolapse/floppy
• Eye (80%)
– Lens capsule: ectopia lentis (sup temporal + intact visible zonule), early cataract
– Sclera: blue sclera, high myopia & Cx
– Cornea/iris: corneal plana > KC/megalocornea
– Others: miosis, iris transillumination (base), OAG
• Other:
– Short life expectancy (half)
– N IQ
– need annual ECHO +- anticoag

45. Gen inspection
-tall stature
-long and thin extremities
-long arm span (arm span>
height/1.05)
-upper:lower body <0.85
Hands
-arachnodactyly
-hyperelastic joint (tip of thumb able to reach forearm)
-+ve Steinberg sign (long thumb)
-Walker sign (long fingers encircling the wrist)
-collapsing pulse (AR), unequal radial pulse
Face & Mouth
-fontal bossing
-high arch palate
Chest/CVS
-pectus excavatum
-early diastolic murmur (AR/dilate)
with low BP/collpasing
pulse/unequal radial pulse
-PSM (MV prolapse)
-spontaneous pneumothorax
-spine scoliosis
OCULAR
-Blue sclera
- Keratoconus, megalo/microcornea
-Ectopia Lentis (superotemporal, intact zonule)
-angle anomaly, glaucoma
-Myopia/lattice/PVD/RD
Abdomen
-hernia

46. Ehlers-Danlos EDS
• AD>AR/XLR (11 types: eye> AR & type VI/oculo-scoliotic)
• PathoP: collagen I & III, lysly hydroxylase deficiency (VIA,
not VIB)
• SSx:
• Classic: hyper extensibility, easy bruise, cigarette paper scar
• Eye: blue sclera, brittle cornea/KC/KG, EOM rupture, high
myope/ectopia lentia/premature PVD
• Sys: mitral valve prolase, GI rupture
• Ix:
– hydroxylysine deficiency in skin bx
– altered urinary ratio of lysyl pyridinoline to hydroxylysyl
pyridinoline

47. Stickler (Arthro-ophthalmopathy)
• Hereditary Hyaloideoretinopathies with optical empty vitreous
• AD/4types/Type 2 collagen (Chr 12/COL2A1)
• Eye:
– VR: beaded/ fibrillar/membranous, lattice/RD (65%! poor
prognosis/multiple & large & >post break)
– Sclera: Myopic & Cx
– Others: cataract (comma shape CC), OAG
• Systemic
• MSK (large jt dysplasia/PRS/high mobility)
• Deafness
• Mitral valce prolapse
• Mx: genetic test/counselling, prophylatic retinal tear laser
• Variant: Wagner (AD)- a/w myopia/cataract/strabismus, NO
systemic & RD), Weill Marchesani (microspherophakia/ectopia
lentis)

48. Pseudoxanthoma elasticum
• = Groenblad-Stranberg Syndrome
• Hereditary/connective tissue dz (non inflam)
• progressive calcification, fragmentation and
degeneration of elastic fibres @ skin, eye and CVS
• SSx:
• Eye: angioid streaks (85%/most common cause) aft 20s
• Skin: ‘plucked chicken’ @neck/axillae/antecubital fossae

49. Other Congenital Skin-Eye
• Ichthyosis (skin scale/tight)
– @Refsum (AR/peroxisomal dz (phytanic acid)/Pig-
Ret/CNS/O atrophy)
– @Sjogren-Larsson crystalline maculopathy
• Incontinentia pigmenti (Bloch-Sulzberger)
– XLD (male lethal)
– Sys: streaky/CNS/teeth
– Eye: Pig-Ret/peripheral non perfusion to neoV/TRD,
cataract

50. • GH hypersecretion from pit adenoma → overgrowth
(bone/soft tis/DM/HPT)
• OCULAR MENIFESTATIONS (Pituitary pressure)
–Bitemporal hemianopia → bow tie optic atrophy
–3/4/6 CN palsies- cavernous sinus wall compression
–See saw nystagmus
–DR/HPT retinopathy
–Angiod streak
• Ix: BP/DXT, hormone level (GH with OGTT/IGH-1),
ECG/ECHO, pituitary MRI
• Mx
• Pituitary surgery/Irradiation
• Drugs (DM/HPT)
• Hormone: Bromocriptine (Prolacinoma), Somastatin (GH)
• cardiac failure RX
Acromegaly

51. FACE
-coarse facies
-prominent supraorbital ridge
- Frontal bossing
- Thickened nose
- Large ear
- Prominent mandible
- Prognatism
- Thickened lips
- Widely spaced teeth
- macroglossia
Inspection
-tall & big
HAND
- Big hand,
- Spade shaped hand
- sweating
Absent axillary/ pubic hair
Gynecomastia
ELBOW
-thickened ulnar nerve
- Tinel sign +ve
CVS – gallop rhythm
LUNGS – bibasal crepts
KNEE
– Knee OA
Myopathy
BP high
Dxt high
ABD – hepatosplenomegaly

52. Chromosomal disease & Eye

53. Down Syndrome- ocular
non vision affected
• prominent epicanthal fold
• upward slanting eyelid
• hypertelorism
• ectopion
• brushfield’s iris spots
• blepharoconjunctivitis &
keratoconus
vision affected
• myopia
• cataract (sym/late
childH/75%)
• macular hypoplasia
• foveal hypoplasia
• amblyopia/strabismus/
nystagmus

54. Eye & Trisomy
• Down syndrome (trisomy 21)
– Systemic: learning difficulties, stunted growth, distinctive facial
and peripheral features, thyroid dysfunction, cardiorespiratory
disease and reduced life span.
• Edwards syndrome (trisomy 18)
– Systemic: characteristic facial and peripheral features,
deafness, cardiac anomalies, mental handicap and early death.
– Ocular: cataract, ptosis, microphthalmos, corneal opacity, uveal
and disc coloboma and vitreoretinal dysplasia.

55. Albinism
• reduced melanin synthesis (eye/skin/hair)
• OCA tyrosinase –ve (complete, AR)
• OCA tyrosinase +ve (incomplete, AR)
– darken w age
– +ve hair bulb incubation test (only for >5yo)
• OA (>XLR +-AR)
– Ant: eyebrow/lashes/iris hypoP-transillumination
– Post: foveal hypoplasia, fundus hypoP
– Cx: poor VA/nystagmus (>pendular/horizon/increase in bright/reduce w agevif
incomplete)  true albinism (albinoidism- mild SSx/no foveal hypoplasia)
– others: optic chiasm >crossed @VEP (asym response on single eye VEP), ref error
>myopia, +ve kappa angle
• Systemic
– Chediak Higashi (hemato > ifx/neutropenia)
– Hermansky-Pudlak (hemato > low plt & bruise/lung fibrosis/colitis/CKD)
–Waardenburg (AD/white forelock/synophrys/deaf/CNS/medial canthus displacement)
– SCC/BCC risk

56. Deaf & eye
Congenital
• With pigmentary retinopathy
– Usher
– Syndromic RP (Refsum/Leber congenital amaurosis)
– Cockayne/Alstrom/Alport/Hurler (MPS) syndrome
– Congenital syphilis/rubella/CMV
– MIDD/kearns-Sayre (mitochondrial myoaptahy CPEO)
• Osteogenesis imperfecta (type I & IIA)
• Waardenburg syndrome (iris hypochromia)
• Edwards (T18)
• Wildervanck Syndrome (cervico-oculo-acoustic: Duane/deaf/Klippel Fiel spine
anomaly)
• Paget’s disease
• Noorie’s- XLR/VH/cataract/RD
• Hereditary optic atrophy- Wolfram (DIDMOA-D), Kjer (DOA-D), deafness-
dystonia-optic neuropathy syndrome
Young adult
• Cogan symptoms (autoimmune vasculitis)
• Susac syndrome (retinocochleocerebral vasculopathy)
• VKH
• NF 2 with acoustic neuroma

58. Congenital heterochromia
• Horner’s syndrome
• Benign heterochromia
• Sturge-Weber syndrome
• Waardenburg syndrome
• Piebaldism
• Hirschsprung disease
• Bloch-Sulzberger syndrome
• von Recklinghausen disease
• Bourneville disease
• Parry-Romberg syndrome

59. Acquired heterochromia
• Eye injury
• Bleeding in the eye
• Swelling, due to iritis or uveitis
• Eye surgery
• Fuchs' heterochromic cyclitis
• Acquired Horner’s syndrome
• Glaucoma and some medications used to treat it
• Latisse, a repurposed glaucoma medication used cosmetically to thicken
eyelashes
• Pigment dispersion syndrome
• Ocular melanosis
• Posner-Schlossman syndrome
• Iris ectropion syndrome
• Benign and malignant tumors of the iris
• Diabetes mellitus
• Central retinal vein occlusion
• Chediak-Higashi syndrome

60. Rare congenital- Eyelid/lashes
• Goldstein Hutt
– trichomegaly + cataract + RBC spherocytosis
• Oliver McFarlene
– hypertrichosis of eyelashes & eye brow
• Cornelia de Lange (Bushy)
– excessive hair (lash/brow/body), synophrys,
growth d/o (short), mental d/o

65. INSPECTION
- Pt alert & comfortable
- The most obvious sign is patient has staring eyes
- He has proptosis (looking from front/ side/ up)→ I will measure the
degree of proptosis with Hertel later. Shine: the proptosis looks axial/
non axial
- There is also presence of lid retraction with scleral show
- There is fullness of the eyelid –inflamed/not
- Conj white/ injected esp at insertion of recti muscle
- There is/ no caruncular edema
- No cockscrew vessels
- No surgical scar/ mass at periorbital region
PUPIL
- Pupil symmpetrical in size
- No RAPD
EOM
- Cornea reflex central/ deviated
- Limitation of movement….
LIDS
- NO lagophthalmos – Bells
- Lid lag
- Fatiguability
- Cogan lid twitch

66. GOITRE
- There is presence of neck swelling – diffuse/ solitary
- Swallow, protrude tongue
- Palpate from back
- Check retrosternal extension
HANDS
- Palmar erythema/warm/sweat
- Acropachy: clubbing/digital swelling
- Pulse – tachy/AF
- Tremor
- Prox myopathy
- Reflexes
CVS
- Murmur/ displaced apex beat
LEGS
- Pretibial myxedema
- Prox myopathy
- Reflexes
OCULAR.. I want to see
- Corneaa details for exposure
keratopathy
- IOP esp on upgaze (sig >6)
- Post segment – OD
appearance, evidence of
CRVO, choroidal folds

67. Non thyroid Proptosis
• CCF
• Meningioma
• Cavernous
hemangioma
• Glioma
• Lymphangioma
• Orbital pseudotumor
• Frontal/ Ethmoidal
mucocele
• Lacrimal gland tumor
AXIAL NON- AXIAL
Palpate
- Orbital rim mass
- Retropulsion, Thrill
Auscultate
- Bruit
Vasalva manoeuvre – if suspect lymphangioma

68. Insp
- Comfortable
- Face : adenoma sebaceum, ash leaf spot
- Trunk : shegreen patch, café au lait, skin tag
- Nail : subungual fibroma

69. Systemic manifestation (CVP)
• Cerebral : astrocytoma/epilepsy/low IQ
• Pulmonary lymphangioleomyomatosis
• Visceral cyst/hamarthoma (cardiac and renal)

70. Ocular manifestation
• ANTERIOR SEGMENT
- Hypopigmented iris
• POSTERIOR SEGMENT
- Retinal astrocytoma
- Hypopigmented fundus

72. Lids : mechanical ptosis
Eyes grossly looks
normal/redness/buphthalmos/
Corneal opacity
Port wine stain @ Rt sided of the face
–V1 & V2 didtribution
Hypertrophy of the face
Systemic association the may have
epilepsy, hemipareris,hemianopia
• Angioma of CNS
- Meninges(pia)
- Brain : ipsilateral parietooccipital
• Calcification at same location
(tram tracksign)

73. Would like to check :
- VA (amblyopia)
- AS : GDD, trabec
- Measure IOP- 30 % has glaucoma
- Gonio : open angle, blood in schlemn canal,
angle anomaly, CB angioma
- look for cataract/lens sublux (Hemangioma:
episcleral vessels)
- Post segment : OD cupping, diffuse
choroidal hemangioma up to 40%

74. Ix
• Ocular : - HVF
• Systemic :
- CT/MRI brain
• angioma of meninges (pia)/brain
• tram track sign (calcification of angioma)

75. Mx
• Ocular : glaucoma (medical and surgical)
• Systemic : liase with pediatrician/
neurosurgery

76. Inspection
- Pt comfortable
- Most obvious sign
- Rt periorbital plexiform neurofibroma
- Multiple cutaneous neurofibroma over the face
I would like to examine
- Evidence of café au let (>6 each >0.5cm prepuberty / >1.5cm post puberty)
- Axillary & inguinal freckling
- Characteristic of bony lesion
- Sphenoid dyslplasis (palpate for pulsatile proptosis)
- Long bone cortex thinning/ dysplasia (limb x ray)
Ocular
- Lisch nodules (>2)
- Optic glioma (RAPD , retropulsion, ON appearance)
- Choroidal nevi
- Retinal astrocytoma

77. Inspection
- Pt is alert & comfortable
- Most obvious sign- obese with truncal obesity
Face
- Moonface
- Alopecia
- Acne
- Hirsutism
Back
- buffalo hump
- Supraclavicular fat pad
Hands/ Forearm
- Thinning of skin
- Purpura and bruising of the skin of hands/ forearm
- No joint swelling/ rashes
- No rheumatoid nodule
- No psoriatic plaque/ rashes
Abdomen
- Purplish stirae
- Adrenalectomy scar
Leg
- Thinning of skin
- Ulcer
- Proximal myopathy

78. OCULAR
CAUSE
Ant Segment
- Mooren/ PUK
- Anterior Uveitis
- Scleritis
Post Segment
- Posterior Uveitis
- Endophthalmitis
COMPLICATIONS
Ant Segment
- Glaucoma
- Cataract
Post Segment
- DM/ HPT retinopathy

79. Psoriasis