This document summarizes the case of a 6-year-old male child with blepharophimosis-ptosis epicanthus inversus syndrome. On examination, the patient had small eyes, drooping eyelids, reduced vertical palpebral aperture, absent lid creases, and inward-folded skin at the inner corner of the eyes. Based on these findings, the patient was diagnosed with moderate bilateral blepharophimosis-ptosis epicanthus inversus syndrome type 2. To correct the eyelid abnormalities, the patient underwent a single-stage procedure involving bilateral Mustarde's double Z plasty with fascial sling surgery. The document discusses the features, genetics, associations, and surgical

1. PRESENTER
Dr. AYUSHI AGARWAL
MODERATORS
Dr. SUSHIL KUMAR
Dr. RUCHI GOEL

2. Patient Profile Chief Complaints
2
Name – Mohammed Rehan
Age/Sex – 6yr/Male child
Resident of Noida, U.P.
(Informant – Mother)
C/o small eyes associated with drooping
of B/E Upper lids since birth
No history of similar complaints in the family
No history of trauma
No history of previous surgery
No history of fever
No significant past/treatment history
Birth History : full term, normal vaginal delivery (FTNVD) at hospital
Immunization history: Fully immunized

3. FAMILY TREE
3
4yrs6yrs

4. EXAMINATION
Patient was conscious, well oriented to time, place and person
General Physical Examination:
Vitals : Stable
Average built, No e/o Pallor/Lymphadenopathy/Icterus/Clubbing/Cyanosis/Edema
Systemic Examination: Grossly Within Normal Limit
4

5. LOCAL EXAMINATION
Parameter Right Eye Left Eye
BCVA 6/18 (Aided) 6/12 (Aided)
Head Posture & Facial symmetry Chin lift present Chin lift present
Forehead Forehead crease + Forehead crease +
Eyebrows Frontalis overaction + Frontalis overaction +
Orbit No discontinuity/tenderness No discontinuity/tenderness
5
-3.75 -2.75
1500
-1
01800

6. Right Left
Epicanthus
inversus +
Epicanthus
inversus +
Marginal Reflex Distance1 (MRD1) - 3 mm -3mm
Marginal Reflex Distance2 (MRD2) 5mm 5mm
Vertical palpebral Aperture (VPA) - Up-gaze
- Primary
- Down-gaze
2mm
2mm
3mm
2mm
2mm
3mm
Levator Palpebrae Superioris (LPS) 1mm 1mm
Lid Crease Absent Absent
Horizontal Palpebral Fissure Length (HPFL) 21mm 21mm
Inner Canthal Distance (ICD) 35mm
Outer Canthal Distance (OCD) 77mm
Inter Pupillary Distance (IPD) 50mm
Bells Phenomenon good good
Marcus Gunn Jaw Winking Phenomenon
(MGJWP)
NIL NIL
EYELID EXAMINATION
6

7. Right Left
Eyeball Normal
Pseudoesotropia present
Extraocular movements full and free
Normal
Pseudoesotropia present
Extraocular movements full and free
Conjunctiva Within Normal limits (No congestion/discharge) Within Normal limits (No congestion/discharge)
Cornea Clear, Avascular Clear, Avascular
Sclera No nodules/ ectasia No nodules/ ectasia
Anterior chamber Van Herrick Grade IV Van Herrick Grade IV
Iris Brown and radial
No coloboma/synechiae/nodules/vascularization
Brown and radial
No coloboma/synechiae/nodules/vascularization
Pupils NSNR NSNR
Lens Clear Clear
IOP Normal digital tension
NCT – 14
Normal digital tension
NCT - 16
Lacrimal drainage Patent Patent
Fundus CDR 0.3:1, AV 2:3, Foveal reflex sharp CDR 0.3:1, AV 2:3, Foveal reflex sharp
7

8. DIAGNOSIS
8
Blepharophimosis-Ptosis Epicanthus Inversus syndrome (Moderate BPES Type 2 )
with Bilateral Amblyopia

9. MANAGEMENT
9
- Gross congenital anomalies, systemic and syndromic associations, hypertelorism ruled
out
- Our patient was planned for a single stage procedure
- Bilateral Mustarde’s double Z plasty with Bilateral Fascial Lata sling surgery was
done (under General Anesthesia)

10. DISCUSSION
10

11. Blepharophimosis – first described by Komoto in 1921. Dimitry in the same year
traced the pedigree of a family of “BPES”
KOHN and ROMANO stressed the importance of telecanthus and other
associated features – aka Kohn-Romano syndrome
MUSTARDE classified eyelid disorders as:
Group 1 Group 2 Group 3
Soft tissue
involvement
Soft tissue + bony abnormalities
(mandibulofacial dysostosis)
Primarily Bony (Apert & Crouzon’s) + soft
tissue involvement
FOXL2 gene mutation (chromosome 3q23)
11
Expressed in developing eyelids and adult ovaries

12. Type 1 Type 2
Type 3
12
- AD
- 100% penetrance
- Male to male
transmission
- Infertile females
- AD
- 96.5% penetrance
- M=F transmission
- Lateral ectropion
Type 2 with
associated
Hypertelorism
BPES with Lateral ectropion

13. 13
ICD/HPFL = 1.3-1.5
1.5-1.8
> 1.8
MILD
MODERATE
SEVERE
1.6 (35/22) in
this case

14. 14

15. 15
 Increased bony inter orbital distance(BIOD)
 Measured as the shortest distance between the two medial orbital walls on axial scans.
 The normal value is 16 mm at birth. In adults it increases to 25 mm for females and 28 mm for males.
HYPERTELORISM
Illusory Hypertelorism
False impression of Hypertelorism
seen in:
• Flat nasal bridge
• Epicanthal folds,
• Exotropia,
• Widely spaced eyebrows,
• Narrow palpebral fissures

16. 16
FARKAS CANTHAL INDEX
- Inner canthal distance/Outer canthal distance X 100
- Less accurate than bony inter-orbital distance (BOID)
- Useful when only clinical photographs present (independent of size)
- Values to be compared with respective racial norms
- 38 = Upper normal limit
38 – 42 = Europyia
> 42 = Hypertelorism

17. 17
CLINICAL FEATURES
TETRAD of
 Blepharophimosis ( HPFL)
 Ptosis (Hypoplastic tarsus with absent lid crease)
 Epicanthus inversus
 Telecanthus

18. 18
LID
1. Lateral ectropion
2. S-shaped Upper Lid
3. Trichiasis
LACRIMAL
1. Lateral displacement/Posterior ectopia of lower punctum
2. Medial displacement/ Stenosis of upper punctum
3. Elongation of canaliculi
4. Punctal reduplication
5. NLD anomalies
OCULAR
1. Nystagmus
2. Microphthalmos
3. Microcornea
4. Strabismus
5. Iridofundal colobomas

19. 19
STRABISMUS
(20% MANIFEST)
70%
Esotropia
25%
Exotropia
5%
Hypotropia
Refractive
Error (34%)
30%
Anisometropic
hypermetropia
34% Anisometropic
myopia
56% Bilateral
Amblyopia

20. 20
SYNDROMIC ASSOCIATIONS
NOONAN’S SYNDROME WILLIAM’S SYNDROME

21. 21
Marden-Walker syndrome Schwartz-Jampel syndrome Waardenberg syndrome
Edward’s syndrome
BMRS (Blepharophimosis – Mental Retardation syndrome)

22. 22
 Ohdo syndrome
 Say-Barber-Biesecker-Young–Simpson variant of Ohdo
 Cerebro-oculo-facial-digital syndrome
 Dubowitz syndrome
 Toriello – Carey syndrome
 Campomelic dysplasia
 Smith-Lemli-Opitz syndrome

23. 23
MANAGEMENT
 Genetic evaluation and counselling is essential
 Rule out syndromic associations, systemic involvement and gross congenital
anomalies
 Type 1 – female infertility – complete gynecological and endocrine workup –
need for HRT
 Family history crucial (25% - no known association)
 Early intervention – amblyopia
 Staged correction : Most Popular
Stage 1 (correction of epicanthus and telecanthus) followed by Stage 2
(correction of ptosis), 6mo-1year later

24. 24
TECHNIQUES
 STAGE 1 (Correction of Epicanthus and Telecanthus)
Soft tissue element Surgery
Skin  Mustarde’s double Z plasty (MC)
 Kohn’s C-U Plasty
 Verwey’s Y-V plasty
 Spaeth’s Double Z plasty
 Roveda technique
Soft tissue Excision
Medial Canthal tendon  MCT Plication (Bunnell’s technique)
 MCT Resection
 Trans-nasal wiring

25. 25
= 35mm
= 50mm
= 77mm Difference between calculated and measured IPD
in our case
1. Calculated: 77-35/2 + 35 = 56mm
2. Measured: 50mm
In telecanthus, calculated = measured IPD
Desired ICD in our case = 25mm (ICD one-half
of IPD)
Difference = 10mm (35-25mm)

26. 26
MUSTARDE’S DOUBLE Z PLASTY
aka Running/ Flying man/ Four flap technique
B
C
D
P1 – Intended site of the new
canthus (in our case 5mm)
P2 – skin drawn towards nose
obliterating the epicanthal
fold
BC = DC = 2mm less than 5mm
= 3mm at 60 degree
Equal length lines drawn 45
degree angle and paramarginal
lines marked
Flaps undermined
MCT divided and sutured to
the periosteum
Resuturing
(A) (B)
(C) (D)
E
F

27. 27
Kohn’s C-U Plasty
Five-flap technique
V-Y Plasty
Roveda technique

28. 28
 STAGE 2
1) Correction of ptosis via frontalis suspension procedures
• Autogenous Fascia Lata
• Silicon sling
2) Supramaximal LPS resection if demonstrable LPS

29. 29
SINGLE STAGE PROCEDURE
A. Advantages
• Reduced hospitalization time
• Risk and expenses of multiple surgeries reduced
• Low attrition rate
• Comparable surgical and cosmetic results

30. 30
B. Disadvantages
 Excessive traction in different directions
Poor elevation with loosening of medial canthopexy
 Lack of large, multi-center trials on the surgical, cosmetic and functional
outcomes of a single-stage procedure

31. 31
CONCLUSION
 Timing is controversial
 Early enough to prevent amblyopia and late enough for correct ptosis
measurements - BALANCE BETWEEN TWO
 Patients with severe ptosis should be corrected before 3 years (high
risk of amblyopia) and all other patients before 5 years of age
 Early surgical intervention when severe ptosis with high risk of
amblyopia
 Less than 2mm IPFH (Inter-palpebral fissure height) = Staged
procedure preferred

32. 32
THANK
YOU