A 14-year-old boy presented with 10 years of dimming vision that worsened at night. On examination, he had polydactyly, brachydactyly, and hypodontia. Funduscopic examination revealed pale optic discs, attenuated blood vessels, bony speckling in the mid-periphery sparing the macula, and white flakiness over the background. The provisional diagnosis was retinitis pigmentosa with systemic association based on the retinal findings and systemic abnormalities. Differential diagnoses included Bardet-Biedl syndrome, Laurence Moon Biedl syndrome, and other conditions. Further investigations including visual field analysis, electroretinography, and genetic

1. DR. ROKHSANDA REHNUMA
Student of Diploma in Ophthalmology,
Session-July,2013
BSMMU, Dhaka.

2. Salient Features
My patient MR.Robiul,14 years of age,hailing from Kalimchar,rangpur came to
this hospital with the complaints of dimness of vision(b/E) for 10years.
Dimness of vision is more at night and he is unable to do anything by late
evening.
The patient was born full term via spontaneous vaginal delivery of twin
pregnancy.He is the 2nd one.His sibling is normal.His parents are relatives.He
was admitted in A school but he could not continue it.

3. On examination,patient is having short stature with trunkal
obesity.Patient was noted to have six digits in all extremities(polydactyly-
hexadactyly) and brachydactyly of 5th finger of both hands.The patient
also had small dental roots and hypodontia.
His blood pressure was 120/90mm(hg), pulse rate was
70beats/min.Temperature was 98˚F.
No organomegaly found.Hypogonadism was not present.

4. ON OCULAR EXAMINATION:
Visual acuity R/E L/E
Distant 3/60 3/60
With pinhole NI NI
Refraction NI NI
Near vision N 14 N 14
Pupillary light reaction Brisk Brisk
Hirschberg reflex Central Central
Ocular motility Full in all gaze Full in all gaze

5. On slit lamp examination, eyelids were normal, conjunctiva normal,
cornea was transparent, anterior chamber was normal in depth both
centrally and peripherally, pupil was round, regular and reacting. Iris-
normal, lens was transparent.
IOP-12mm(Hg) [B/E]

6. ON FUNDOSCOPIC EXAMINATION
R/E L/E
Media Clear Clear
Optic disc • Normal in size and shape
• Colour-slightly pale.
• Normal in size and shape
• Colour-slightly pale.
Background • Blood vassels are
attenuated.
• Bony specule like
depositions in mid
periphery sparing the
macula.
• White flake like appearance
all over the background
• Blood vassels are
attenuated.
• Bony specule like
depositions in mid
periphery sparing the
macula.
• White flake like appearance
all over the background
Macula Cellophane maculopahy Cellophane maculopathy

7. SO MY PROVISIONAL DIAGNOSIS IS-
RETINITIS PIGMENTOSA WITH SYSTEMIC ASSOCIATION.

9. R/E L/E

10. DIFFERENTIAL DIAGNOSIS:
1. Bardet-Biedl syndrome
2. Laurence Moon Biedl syndrome
3. Vitamin A deficiency
4. Choroideraemia
5. Gyrate atrophy

11. INVESTIGATIONS:
• Visual field analysis(VFA)
• Electroretinogram(ERG)
• Electrooculogram(EOG)
• RBS
• Chest x-ray(P/A view)
• ECG
• Echocardiogram
• Renal USG
• Blood urea
• Serum creatinine
• Genotyping

12. THANK YOU