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| albinism [2015/06/29 03:18] – admin | albinism [2025/10/29 20:00] (current) – Scott Larson | ||
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| ====== Albinism ====== | ====== Albinism ====== | ||
| - | ====Main Features==== | + | ==== Main Features ==== |
| * Oculocutaneous Albinism (OCA): Hypopigmentation of skin and hair with characteristic eye findings | * Oculocutaneous Albinism (OCA): Hypopigmentation of skin and hair with characteristic eye findings | ||
| * Ocular Albinism (OA): Normal skin and hair pigmentation with characteristic eye findings | * Ocular Albinism (OA): Normal skin and hair pigmentation with characteristic eye findings | ||
| - | ====Eye Findings==== | + | ==== Eye Findings ==== |
| * Refractive error: significant myopia, hyperopia and/or astigmatism | * Refractive error: significant myopia, hyperopia and/or astigmatism | ||
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| * Fundus: Hypopigmentation, | * Fundus: Hypopigmentation, | ||
| * Optic nerve function: Abnormal visual evoked potentials (representing abnormally high amount of decussation of ganglion cell fibers) | * Optic nerve function: Abnormal visual evoked potentials (representing abnormally high amount of decussation of ganglion cell fibers) | ||
| - | ====Etiology==== | + | ==== Etiology ==== |
| * OCA: autosomal recessive | * OCA: autosomal recessive | ||
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| * OCA4: MAPT gene mutation (SLC45A2) | * OCA4: MAPT gene mutation (SLC45A2) | ||
| * [[hermansky_pudlak_syndrome|Hermansky-Pudlak syndrome]]: mutation in any of HPS1 (10q23.1), HPS2 (5q13) , HPS3 (3q24), HPS4 (22q11.2-q12.2), | * [[hermansky_pudlak_syndrome|Hermansky-Pudlak syndrome]]: mutation in any of HPS1 (10q23.1), HPS2 (5q13) , HPS3 (3q24), HPS4 (22q11.2-q12.2), | ||
| - | * Chediak-Higashi syndrome: chromosome 1 | + | * [[chediak_higashi_syndrome|Chediak-Higashi syndrome]]: chromosome 1 |
| - | * OA: X-linked | + | * OA: Ocular Albinism |
| * OA1 gene mutations (Xp22): males with normal hair and skin pigment, abnormal melanosome production | * OA1 gene mutations (Xp22): males with normal hair and skin pigment, abnormal melanosome production | ||
| - | ====Other Findings==== | + | * giant melanosomes on skin biopsy if preformed, defect is in melanosome production |
| + | * can have late onset sensorineural deafness | ||
| + | * female carriers have mosaic pigmentation of peripheral fundus | ||
| + | * OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600, | ||
| + | * OA3: Autosomal recessive. [[https:// | ||
| + | * OA with sensorineural deafness: [[https:// | ||
| + | * Waardenberg Syndrome type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene | ||
| + | ==== Other Findings ==== | ||
| * OCA1A: No pigment of hair or skin, coarse rough skin, unpigmented nevi, solar keratoses (premalignant) basal cell or squamous cell carcinomas (actually quite rare due to good prevention), | * OCA1A: No pigment of hair or skin, coarse rough skin, unpigmented nevi, solar keratoses (premalignant) basal cell or squamous cell carcinomas (actually quite rare due to good prevention), | ||
| * OCA1B: white to very light hair and skin at birth with variable amounts of darkening, pigmented nevi and freckles can develop | * OCA1B: white to very light hair and skin at birth with variable amounts of darkening, pigmented nevi and freckles can develop | ||
| * OCA2: Pigmented hair at birth, no generalized skin pigmentation but pigmented nevi and freckles can develop | * OCA2: Pigmented hair at birth, no generalized skin pigmentation but pigmented nevi and freckles can develop | ||
| * OCA4: Variable pigmentation of skin and hair, similar to OCA2 | * OCA4: Variable pigmentation of skin and hair, similar to OCA2 | ||
| - | * Hermansky-Pudlak syndrome: lethal subtype | + | * [[hermansky_pudlak_syndrome|Hermansky-Pudlak syndrome]] |
| - | * Chediak-Higashi syndrome: lethal subtype | + | * Potentially |
| - | * OA1: giant melanosomes on skin biopsy if preformed, defect is in melanosome production, can have late onset sensorineural deafness, female carriers have mosaic pigmentation of peripheral fundus | + | * Bleeding diathesis |
| - | * OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600, | + | * Pulmonary Fibrosis |
| - | * OA3: ocular albinism that is autosomal recessive: OMIM: 203310 (6q13-q15) or (15q11.2-q12) | + | * Granulomatous colitis |
| - | * OA with sensorineural deafness: OMIM: 103470 (11q14-q21, 3p14.1-p12.3) | + | * [[chediak_higashi_syndrome|Chediak-Higashi syndrome]] |
| - | * Waardenberg Syndrome type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene | + | * Potentially |
| - | ====References==== | + | * Congenital Immunodeficiency causing infections of skin and respiratory tract |
| + | * Bleeding Diathesis | ||
| + | * Progressive Neurodegeneration | ||
| + | |||
| + | ==== References ==== | ||
| - | * Duane' | + | * [[https:// |
| * Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet 11: | * Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet 11: | ||
| * [[http:// | * [[http:// | ||
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| * [[http:// | * [[http:// | ||
| - | {{tag> | + | {{tag> |