Differential Diagnosis > Other > Specific Patients > Ophthalmology Patient > Derm Diseases with Ophtho Findings

Derm Diseases with Ophtho Findings

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Disease:Optho finding:

 

Behcets diseaseposterior uveitis (= diagnostic criterion, but can have either)

 

Cockaynes salt and pepper retinal pigment

 

Fabry diseasecharacteristic corneal opacities with whorl

       like configuration

 

Gardner syndromeCHRPE

 

homocystinuriaectopia lentis (downward dislocation)

 

LEOPARD syndromeocular hypertelorism

 

Loa Loa“eye worm”; crawls across eye

 

Marfan syndromeectopia lentis (upward dislocation)

 

Nail patella syndromeLester iris

 

Neurofibromatosis ILisch nodules;  sphenoid wing dysplasia; optic gliomas

 

Neurofibromatosis IIjuvenile posterior subcapsular cataracts

 

osteogenesis imperfectablue sclera

 

plaquenilirreversible retinopathy finding; reversible deposits on cornea (minimal symptoms) finding

 

PUVA treatmentcataracts

 

PXEangioid streaks

 

Reiters syndromeconjunctivitis

 

Refsum's diseaseretinitis pigmentosa

 

SBERoth spots        

 

Sturge-Weber syndrome ipsilateral glaucoma        

 

Sjogren-Larsson syndrome“glistening dots”

 

X-linked ichthyosis comma shaped corneal opacities        

 

Waardernberg syndromeheterochromia irides (25%)        

       dystopia acanthorum

 

Wilsons diseaseKaiser-Fleisher rings

 

 

OTHER:

 

hmtoggle_plus1Fabry’s disease and X-linked ichthyosis:
both X-linked recessive
both with corneal opacities:  (Fabrys whorled;  X-linked ichthyosis comma-shaped)
both enzyme deficiencies:  (Fabrys -  alpha-galactosidase deficiency;  X-linked ichthyosis steroid sulfatase deficiency)

 

 

Sarcoid Ocular Syndromes:

hmtoggle_plus1Lofgrens syndrome
erythema nodosum
bilateral hilar LAN
acute iridocyclitis (AKA anterior uveitis) (usually self-limiting)

 

hmtoggle_plus1Heerfordt’s syndrome (AKA uveoparotid fever)
fever
uveitis
parotid gland enlargement
cranial nerve palsy (usually VII)