Case presentation on Oculocutaneous albinism.pptx

A rare case presentation on Oculocutaneous albinism

1. Case Presentation PRESENTED BY:-Dr. Ranjita Amanatya 2 nd year PG, VIMSAR, Burla Oculocutaneous albinism (OCA) a case report

2. Age:- 13 years Sex:- Hindu Female Child Chief complaint :- Diminution of vision(DOV) (BES) since birth, a/w photophobia HOPI :- To start with a 13years old female child presented with to the EYE OPD with complain of DOV(BES) since birth which was associated with photophobia ,not a/w redness,discharge .

3. HISTORY OF PAST ILLNESS:- FAMILY HISTORY:- PERSONAL HISTORY:- Not a k/c/o Thyroid disease, Sickle cell disease No h/o ocular trauma/ head injury No h/o allergies No h/o antenatal/ perinatal complications & the mother’s serology was negative Elder sister had similar ocular symptoms Patient had normal body built Normal developmental milestone Normal bowel & bladder habit Patient was on mixed Indian diet

4. GENERAL EXAMIATION:- Pt. was conscious, well oriented to time, place & person No pallor, icterus, clubbing, K oilonychia , lymphadenopathy , e dema B .P.:- 102/74 mmHg P .R.:- 94 beats/min SYSTEMIC EXAMINATION:- Chest:- B/L symmetrical VBS heard CVS :-S1 S2 no murmur CNS :- NAD

5. OCULAR EXAMINATION:- Visual Acuity IOP 5/60 3/60 18mmHg 16mmHg B/L & full in all directions (BES) Horizontal nystagmus (BES) EOM V.A. (P.H.) 6/36 6/36

6. OD OS Eyelid Hypopigmented skin Hypopigmented skin Eyelashes Hypopigmented Hypopigmented Conjunctiva Quite Quite Cornea Clear Clear AC (Content & Depth) Normal Normal Iris Normal Normal Pupil Cir/LR(+ ve ) Cir/LR(+ ve ) Lens Clear Clear Anterior Segment Examination:-

7. Posterior Segment Examination :- OD OS Optic disc shape Normal Normal size Normal Normal colour Hyperemic Hyperemic margin Well defined Well defined Macula FR(absent) FR(absent) C:D ratio Blood vessels Prominent choroidal vessels Prominent choroidal vessels Periphery Amelanotic Amelanotic Impression Albinotic fundus Albinotic fundus

8. OD OS FUNDUS PHOTOGRAPH:-

9. Spectacle correction TREATMENT:- Advice:- Wear dark goggles Apply sunscreen lotion while going outside

10. PROVISIONAL DIAGNOSIS:- OCULOCUTANEOUS ALBINISM (BES) with Myopia

11. Family history s/o OCA:- FUNDUS PHOTOGRAPH OD OS 15years old HFCh,had complain of DOV since since birth,a /w intermittent watering O/E:- Horizontal nystagmus (BES) OD OS VA 5/60 5/60 VA (P.H.) 6/36 6/36 IOP (mmHg) 14 18 FUNDUS EXAMINATION:- ALBINOTIC FUNDUS (BES)

12. DISCUSSION :- OCA is a heterogeneous group of genetically determind disorder characterized by disrupted synthesis of melanin, melanosome maturation during development. C/F of OCA:- Cutaneous involvement Ocular involvement Classification:- Type 1A,1B Type 2 Type 3( Rufou oculocutaneous albinism) Type 4,5,6,7,8 Classification:-

13. Discussion cont..... Commonest signs:- Foveal hypoplasia Congenital nystagmus Iris hypopigmentation Hypopigmentation of R.P.E. The rarity of this genetic disease incited it’s reporting. Further research & case studies are needed to enhance our understanding Of OCA. References:- Okamura, K.; Suzuki, T. Current landscape of Oculocutaneous Albinism in Japan. Pigment. Cell Melanoma Res. 2021, 34, 190–203. Andersen, J.D.; Pietroni , C.; Johansen, P.; Andersen, M.M.; Pereira, V.A.E.S.; Børsting , C.; Morling , N. Importance of nonsynonymous OCA2variants in human eye color prediction. Mol. Genet. Genom . Med. 2016, 4, 420–430.

14. Thank you