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Albinism
- Oculocutaneous albinism
Hair, skin and eyes
Auto-recessive
Photophobia and squinting
- Ocular albinism
Skin normal
Nystagmus
Iris translucent
Poor visual acuity
X Linked auto-recessive
Darier's disease
- Red to brown skin papules and scales, nail anomalies
- Corneal opacities
Ichthyosis
- Skin scaling
- Scales on lashes and lids, SPK
- Some forms have white cornea stromal opacities
- "KID syndrome": keratitis, ichthyosis, and deafness
Incontinentia pigmenti (Bloch-Sulzberger syndrome)
- X linked dominant (97% females - males die)
- "Marble cake" skin hyperpigmentation
- Nipple defects
- Retinal pigment changes
- Retinal vascular occlusion and neovascularization
Hypomelanosis of Ito
- Hypopigmented whorls in skin
- Strabismus, pin-point pupils
Xeroderma pigmentosum
- Extreme photosensitivity, pterygia, dry eye
- Carcinomas
Ehlers-Danlos syndrome
- Hyperextensible skin and joints
- Skin scars easily
- Keratoconus, blue sclera, angiod streaks, subluxation of lens
Juvinile Xanthogranuloma
- Rubbery skin nodules on head and neck
- Iris tumor, spontaneous hyphema, glaucoma
Phakomatoses
Neurofibromatosis
- "Cafe au lait" spot
- Glaucoma, optic nerve glioma
Tuberous sclerosis
- "Adenoma sebaceum" facial angiofibromas
- Retinal hamartoma
Sturge-Weber syndrome
- "Nevus flammeus" hemangioma
- Glaucoma, choroidal hemangioma
Von Hipple-Lindau sundrome
Wyburn-Mason syndrome
- Retinal racemose hemangioma
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