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Genetic disease
Albinism
- Autosomal recessive
- Skin and hair white
- Iris pink
- Poor macular function and reduced acuity
- Nystagmus
- Photophobia
Ocular albinism
- Sex linked recessive
- Signs are confined to eye
Angiomatosis Retinae
Cerebromacular degeneration
- Autosomal recessive
- Neuronal storage defects
- Present at birth and classified by age at diagnosis The later the
onset the milder the disease
- Cherry red macula seen in congenital and infantile
- Optic atrophy seen in juvenile and adult form
- Severe mental retardation
Congenital
Late infantile
Juvenile (Spielmeyer-Vogt)
Adult
Cruzons disease
- Autosomal dominant
- "Frog face"
- Anti-mongoloid slant
- Hyperteliorism
- Maxillary atrophy
- Exotropia
- Optic atrophy
Cystinosis
- Autosomal recessive
- Faulty amino acid metabolism
- Cystine crystal deposits throughout body
- Crystals in corneal stroma
- Dwarfism
- Nephropathy
- Renal failure and death as child
Downs syndrome
- "Mongolism"
- Trisomy of the 21 chromosome
- Small stature
- Round face
- Obesity
- Mental retardation
- Strabismus
- Cataract
- High myopia
- Atrophic "Brushfields spots" on the iris
Galactosemia
- Autosomal recessive
- Disorder of carbohydrate metabolism
- “Oil drop cataract"
- Infant feeding problems
- Vomiting, diarrhea, jaundice
- Cirrhosis
- Retardation
- Dietary exclusion of galactose and lactose foods (Dairy) until age
three
Gargoylism
- Hurlers syndrome
- Mental retardation
- Dwarfism
- Heart failure
- Corneal opacities ("Stroma opalescence")
Hallerman-Strief syndrome
- "Bird face"
- Autosomal dominant
- Congenital cataracts
- Glaucoma
- Nystagmus
- Dental defects
Hemophilia
- Subconjunctival hemorrhage
- Ecchymosis
Homocystinuria
- Autosomal recessive
- Defect in amino acid metabolism
- Mental retardation
- Downward dislocation of lenses
- Early death from mid-sized artery thrombosis
Klinefelter's syndrome
- XXY chromosome female
- Color blindness common like in males
Laurence-Moon-Biedl syndrome
- Autosomal recessive
- Obesity
- Mental retardation
- Hypogenitals
- Retinitis pigmentosa
- Polydactyly
Lowe's syndrome
- Sex linked
- Mental retardation
- Dwarfism
- Defect in renal function
- Congenital cataracts
- Infantile glaucoma
- Males only
- Death at an early age
Marchesani's syndrome
- Autosomal recessive
- Short and stocky
- "Spade shaped feet and hands"
- Ectopia
- Glaucoma
Marfans
- "Arachnodactyly"
- Autosomal dominant
- Long arms and fingers
- Hyperextensible joints
- Cardiac problems
- Ectopic lentis
- Blue sclera
- Pupillary membranes
Neurofibromatosis
- Von Recklinghausen's disease
- Multiple tumors of skin, peripheral nerves, central nervous system
- Autosomal dominant with incomplete penetrance
- Maybe severe in one generation and mild in the next
- "Cafe au lait" pigmented spots
- Tumors often on lids
- Tumors on orbital portion of the optic nerve are common
- Papilledema
- Retrobulbar neuritis
- Optic atrophy
- Auditory nerve often effected
- Can effect bone growth
- Slowly progressive damage
Niemann-Pick disease
- Glyco-lipid deposits in the retina, brain, liver and spleen
- Autosomal recessive
- Infantile form
- Cherry macula and death in two years
- Juvenile form
- No eye signs
Ostegenica Imperfecta
- "Brittle bones"
- Blue sclera's
- Multiple fractures
- Sometimes deafness
- Long bones are brittle
Sickle cell
- Comma shaped conjunctiva vessels
- Sickle shaped red blood cells clog vessels
Sturge-Weber
- Port wine stain on one side of face
- "Nevus flammeus"
- Follows V nerve distribution
- Risk of glaucoma if lesion extends to eyelid
- Seizures common
- Venous aneurysms into brain tissue
- Calcification of cortex
- Autosomal dominant with variable expression
- No treatment
- Often death by age 30
Tuberous Sclerosis
- Bourneville's disease
- "Adenum sebaceum"
- Marked blackheads
- CNS tumors
- Retinal tumors
- Circular white areas in the periphery
- Mulberry appearance
- Hyaline material
- Renal tumors
- Lung cysts
- Convulsive seizures
- Mental retardation
- Autosomal dominant with high degree of penetrance
- Often death in adolescence
Turners syndrome
- Female with only one X chromosome
- Growth retardation
- Color blindness incidence the same as males (8%)
Werners syndrome
- Recessive
- Thinning and graying of hair at age 20 to 30
- Atrophic skin changes
- Juvenile cataracts
- Glaucoma
- Corneal opacities
Wilson's hepaticolenticular disease
- Autosomal recessive
- Abnormal copper metabolism
- Liver cirrhosis
- Cataracts
- Copper in decemets
- Kayser-Fleischer ring
- Green or brown
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