๐๐จ๐ฌ๐ญ ๐๐จ๐ฏ๐๐!โฃ
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๐๐ค๐ถ๐ญ๐ฐ๐ค๐ถ๐ต๐ข๐ฏ๐ฆ๐ฐ๐ถ๐ด/ ๐๐ค๐ถ๐ญ๐ข๐ณ ๐๐ญ๐ฃ๐ช๐ฏ๐ช๐ด๐ฎโฃ
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Albinism is a congenital disorder causing reduced pigmentation due to complete or partial absence of melanin pigment affecting the skin, hair and eye.โฃ
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Absence or defect of tyrosinase which is involved in production of melanin.โฃ
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๐๐ธ๐ฐ ๐ต๐บ๐ฑ๐ฆ๐ด:โฃ
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๐๐๐ฎ๐ฅ๐จ๐๐ฎ๐ญ๐๐ง๐๐จ๐ฎ๐ฌ ๐๐ฅ๐๐ข๐ง๐ข๐ฌ๐ฆโฃ
โ Involves the eye, skin and hairโฃ
โ Autosomal recessiveโฃ
โ Many types - OCA Type 2 is the most common typeโฃ
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๐๐๐ฎ๐ฅ๐๐ซ ๐๐ฅ๐๐ข๐ง๐ข๐ฌ๐ฆโฃ
โ Limited to the eyesโฃ
โ X linked recessiveโฃ
โ Two types (1 and 2)โฃ
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๐๐ญ๐ช๐ฏ๐ช๐ค๐ข๐ญ ๐ง๐ฆ๐ข๐ต๐ถ๐ณ๐ฆ๐ด:โฃ
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โ Poor visual acuityโฃ
โ Strabismus & Amblyopiaโฃ
โ Photophobia - Sensitivity to bright light and glareโฃ
โ Refractive errors- Hypermetropia/Myopia, Astigmatism is very commonโฃ
โ Pendular nystagmusโฃ
โ Iris transillumination defectsโฃ
โ Depigmented fundusโฃ
โ ๐ ๐จ๐ฏ๐๐๐ฅ ๐ก๐ฒ๐ฉ๐จ๐ฉ๐ฅ๐๐ฌ๐ข๐ - absence of the foveal pitโฃ
1. RPE pigmentation is inappropriate for macular developmentโฃ
2. OCT will show absence of normal foveal pitโฃ
3. Foveal avascular zone is small or coexistent with vessels crossing the area 2 discโฃ
diameter temporal to the optic disc marginโฃ
4. Contributes to poor visual acuityโฃ
โ Abnormal decussation of the visual pathwayโฃ
1. Crossing of upto 90% of the fibres at the chiasma to the contralateral sideโฃ
2. Loss of stereopsis and strabismusโฃ
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๐๐ฐ๐ฎ๐ฎ๐ฐ๐ฏ ๐ด๐บ๐ด๐ต๐ฆ๐ฎ๐ช๐ค ๐ข๐ด๐ด๐ฐ๐ค๐ช๐ข๐ต๐ช๐ฐ๐ฏ๐ด:โฃ
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1. Hermansky Pudlak syndrome (platelet storage deficiency)โฃ
2. Chediak-Higashi syndrome (abnormal lysosomal trafficking- recurrent infections)โฃ
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๐๐ณ๐ฆ๐ข๐ต๐ฎ๐ฆ๐ฏ๐ต:โฃ
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โ Recognize refractive errors and treat to minimize amblyopiaโฃ
โ Low vision examination and visual rehabilitationโฃ
โ Sunglasses to reduce photosensitivityโฃ
โ Prisms can help reduce nystagmusโฃ
โ Genetic counsellingโฃ
โ Surgery to align the eyes, when necessaryโฃ
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Image from Rajan Eye Care Hospital
#ophthalmology #ophthal #doctor #health #medical #vision #education #optometry #medicalstudent #optometrist #medicine #eye #ophtho #ophthalmologist #ophthalmo #med #medicaleducation #ophthalmologyresident #ophthalmologyresidency #retina #fovea #albinism #oculocutaneousalbinism #ocularalbinism #macula #melanin #fovealpit #fovealhyoplasia
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