Ms. XYZ, a 14 year old female student, presented with gradual diminishing of vision in both eyes over the past 5 years. Her examination revealed pigmentary changes in the macula and peripheral retina bilaterally consistent with Stargardt disease. Genetic testing and counseling confirmed an autosomal recessive inheritance pattern from her parents' consanguineous marriage. She was referred for low vision rehabilitation including magnification devices for near and distance tasks. Stargardt disease causes progressive central vision loss due to mutations in the ABCA4 gene and accumulation of toxic byproducts in the retina.

1. N A M E : C H A N D R I M A K U N D U
T R A I N E E O P T O M E T R I S T :
D R . S H R O F F ’ S C H A R I T Y E Y E H O S P I T A L
M O D E R A T O R : T A T H A G A T A R O Y
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VIDYASAGAR COLLEGE OF OPTOMETRY & VISION SCIENCE
AFFILIATED TO: MAULANA ABUL KALAM AZAD UNIVERSITY OF TECHNOLOGY

2. DEMOGRAPHIC DATA
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 NAME: Ms. XYZ
 Age/Sex: 14/F
 Occupation: Student
 Date of first visit: 17/02/23 (as Fresh walk-in
patient)
 Address: Gokai Puri, East Delhi
 Dept. Patient is seen: Paediatric department

3. CASE HISTORY
 Chief complaints: Gradual painless diminishing
of vision for distance and near in both eye since 5-
year, associated with mild photophobia from
2months .
 History of present illness:
No history of using spectacle
No history of ocular trauma or head injury is present
No history of recent ophthalmic consultation .
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4.  Birth history: FTND – 37 Weeks, birth weight:
2750grms with no history of NICU/ delayed
crying/ seizures/jaundice
 Systemic history: non contributory
 Family history: Parents had consanguineous
marriage.
 History of surgeries/laser: no prior
procedures.
 History of allergies: Not aware of
 Current medication: nil
 Nutritional status: Normal
 Differently able: No
 Immunization: Complete till date.
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5. CLINICAL EXAMINATION
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Right eye Left eye
Visual acuity (unaided) 6/60, N12 at 25cm 6/60, N12 at 25 cm
Pinhole Vision NI(no improvement NI(no improvement)
Objective Refraction
(Dry)
-0.50dcylx180 -0.50dcylx180
Final subjective
refraction
-0.50dcyl x180 -0.50dcylx180
BCVA: 6/60, N12 at 25 cm 6/60, N12 at 25 cm
Details of habitual spectacle:
Not using

6. ANTERIOR SEGMENT EVALUATION
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 IOP
RIGHT EYE LEFT EYE
EYELIDS Flat Flat
CONJUCTIVA Normal Normal
SCLERA Normal Normal
CORNEA Clear Clear
ANTERIOR CHAMBER Normal in content and
depth PACD = 1CT
Normal in content and
depth PACD =1CT
IRIS Normal in color and
pattern
Normal in color and
pattern
PUPIL Round, regular ,
reacting No RAPD
Round, regular
reacting, No RAPD
RE 15 mm of
Hg
at 11: 23
am
LE 16 mm of
Hg

7. EXTERNAL EXAMINATION
 Facial symmetry: Normal
 External face : Normal
 Head posture : Normal
 Ocular position : Normal
 Ocular alignment : Ortho for D & N
 Ocular motility : Full in all directions.
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8. POST DILATED EXAMINATION
 Lens status : Clear
 OD CDr 0.3:1,Healthy neuroretinal rim.
 Right eye dilated fundus shows Pigmentary changes
at macular region and in temporal paracentral area.
 OS Cdr 0.3:1, healthy neuroretinal rim.
 Left eye dilated fundus examination shows
Pigmentary changes at macular region, pigmentary
changes in temporal area.
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9. PLAN OF MANAGEMENT
 Most likely cone dystrophy
Adv:
1. Retina consultation
2. Autofluorescence
3. LVA consultation
Prognosis explained
Condition and management discussed with patient.
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10. DISCUSSION
 What is stargardt disease?
Stargardt disease is a common inherited macular dystrophy.
 Prevalent in both adults and children with a prevalence of 1 in
8000–10 000.
 It has an autosomal recessive mode of inheritance associated with
disease-causing mutations in the ABCA4 gene.
 Under normal condition, the photorecepors and RPE contains a
membrane transporter encoded by ABCA4 gene, whose function is
to facilitate the elimination of all-trans retinal.
 In stargardt disease this transporter is mutated. This causes
accumulation of vitamin A dimer in photoreceptor which gets
subsequently changed to form a N-retinylidene-N-retinyl-
ethanolamine component of lipofuscin which is toxic to RPE and
photoreceptors resulting in photoreceptor degeneration and
binocular central vision loss.
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11. How to identify that it is a Stargardt disease ?
 Initially, ophthalmoscopy can reveal normal fundus
or mild retinal abnormalities with or without vision
loss.
 OCT- allows early detection of accumulation of
lipofuscin in RPE layer and disorganization of
ellipsoid zone (IS-OS junction) of photoreceptor
layer.
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13.  FFA- reveals ‘dark choroid’ in up 62% of patient.
 FAF- mainly shows hypofluorescent macula due to
atrophy and hyperfluorescent spots due to lipofuscin
deposits in the RPE.
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14. INVESTIGATION
 Colour fundus photo of Right eye showing typical yellow-white flecks with beaten
bronze appearance of macula.
 Colour fundus photo of Left eye shows similar picture of the fundus with bull’s eye
pattern macula.
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15.  Fundus autofluorescence image showing mottled areas of hyper autofluorescence
and hypo autofluorescence due to increases RPE lipofuscin, and macular
degeneration.
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16.  This montage of Right eye shows yellow-white flecks
along with beaten bronze appearance of the macular.
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17.  This Montage of Left eye of the patient shows bull’s eye pattern
appearance of macula with yellowish – white flecks and
temporal scared lesions.
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18. DIFFERENTIAL DIAGNOSIS
 Cone dystrophy
 Cone-Rod Dystrophy
 Leber congenital anomalies
 Choroquine and hydroxychloroquine maculopathy
 Age related macular degeneration
 Bardet Biedl syndrome.
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19. PLAN OF MANAGEMENT(retina department)
 DIAGNOSIS: STARGARDT DISEASE
 ADVICE:
1. genetic counseling
2. Low vision consultation
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20. GENETIC COUNSELING
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21. ADVICE
 Genetic counseling shows that patient family had
consagenous marriage and it is autosomal recessive.
 Mother was counseled for stargardt disease and
genetic etiology and recurrence risk associated with
the condition and, genetic molecular diagnosis
briefly discussed.
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22. 22

23. MANAGEMENT
LOW VISION
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24. Follow up visit (First visit in LV clinic)
History:
 Cause of low vision: Both eye Stargardt Disease
 Marital status: single
 Accompanied by: Mother
 Duration of vision loss : since birth
 Nature: Stable
 Family history: h/o consanguineous marriage
 Medical history: non contributory
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25.  Additional disability: No
 Education: Studying in class 7
 Employment: Student
 Previous LV care: No
 Use of glasses : No
 Near vision task problem: Yes
If yes, can you manage to read at
close distance. : 1. small prints on notebook
2. numbers on mobile
 Is reading a priority: Yes
Educational purpose
 Writing task problem: Yes
 Is writing a priority: Yes
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26.  Distance vision tasks problems: Yes
 Distance vision problems:1. Seeing black board
2. watching TV
3. bus number
 At home: LED tube
 Specific lighting needs: bright light
 Mobility: No problem
 Bumping into objects: No
 Glare problem in bright light: Yes
 Do you have specific outdoor work/activity: Yes
 Do you uses caps/ dark glasses outdoors: No
 Daily living skills problem: coin
identification/shaving/food recognition/colour
identification/dress matching/all no: All no
 Preferred eye: NA
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27. Clinical examination
 HCVA OD: 20/160 OS: 20/160
 B/O HCVA 20/160
 Distance visual acuity- illuminated (ETDRS Chart)
 Near visual acuity :N 12 at 25 cm with bailey Lovie
reading chart.
 Observation (fixation): Centric
 Refraction (dry) OD : -0.50dcyl x180
 OS : -0.50dcyl x 180
 Final subjective refraction: (OU) -0.50dcyl x180
 BCVA: -0.50dcyl x180
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28.  Trail of distance vision telescope : YES
 Magnification required :
BCVA 160/Target VA 32 =5X
4x monocular hand held telescope : 20/63
6x monocular hand held telescope: 20/32
Focusing: Good
Tracing: Good
Tracking: Good
 Reading skill: Average
 Trial of absorptive lens: Yes
Patient’s Preference 1. 32% medium grey fit over filters
 Trial for non optical device: Yes
Patient’s Preference 1. Reading stand
 Trial for near vision device (reading/ writing) : Yes
Magnification required:
BCNVS 12/ Target NVS 6 x 100/25(working distance)= 8D= 2X
1. 2X Dome magnifier (65 mm dia) VA N6
 Trail for electronic devices: Yes
1. Snow 7HD Multi-tasking portable video magnifier VA N6
Visual objectives accomplished : Yes
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29. PLAN AND ADVICE
Rehabilitation plan & advice
 Explained about current visual status and prognosis done
 Contrast adjusting measures suggested advised glasses with
medium grey tint.
 Approach magnification for watching TV and copying from board
explained.
 Advised and dispensed dome magnifier 4x 65 for near.
 Advised 4x handheld telescope for board work where focusing was
good , tracing was good as well as tracking was average, will
dispense on next visit.
 The letter to class teacher for seating arrangement and extra time
in exam has been given.
 Explained about visual disability certificate and government
benefits.
 Advised to apply from www.swablamban.gov.in portal.
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30. CONCLUSION
Just as stargardt disease presents with marked phenotypic
variability, its impact on visual function is highly variable as well.
Currently, there is no treatment for patients with Stargardt
disease, although research on disease pathophysiology and gene
therapy provides hope for future treatment options.
Stargardt patients should be encouraged to maintain good sun
protection, as exposure to bright light can lead to the formation of
all-transretinal in photoreceptors and accumulation of lipofuscin.
Some reports have been noted dimming of vision in stargardt
disease while smoking so, smoking should be avoided . Patient
should also avoid high dose of Vitamin A.

31. THANK YOU
PROUD TO BE AN OPTOMETRIST