Ophthalmic Findings In Inborn Errors Of Metabolism

Corneal Abnormalities

• Deposition of metabolites frequently leads to corneal haziness, rings, or ulcerations.

Metabolic Disorder	Ophthalmic Findings
Mucopolysaccharidoses	Corneal clouding occurs secondary to abnormal deposits, notably in Hurler, Scheie, Morquio, and Maroteaux-Lamy syndromes.
Wilson Disease	Kayser-Fleischer ring manifests as golden-brown ring in peripheral cornea due to Descemet membrane changes.
Fabry Disease	Fine opacities radiate in whorl or fanlike pattern, useful for identifying carrier state.
Tyrosinemia	Unexplained corneal ulcers develop.

Lenticular Abnormalities

• Cataract formation and lens displacement represent primary lenticular manifestations.

Metabolic Disorder	Ophthalmic Findings
Classic Galactosemia	Zonular cataracts develop with distinct oil droplet appearance involving perinuclear layers.
Galactokinase Deficiency	Zonular cataracts represent sole clinical manifestation.
Homocystinuria	Lens subluxation occurs typically in downward and nasal direction.
Sulfite Oxidase Deficiency	Ectopia lentis develops.
Lowe Syndrome	Dense bilateral cataracts present at birth, frequently accompanied by glaucoma and miotic pupils.
Cerebrotendinous Xanthomatosis	Childhood cataracts precede permanent neurologic impairment.
Wilson Disease	Distinctive sunflower cataract occasionally forms.

Retinal And Macular Abnormalities

• Retinal degeneration and macular lipid accumulation constitute severe posterior segment complications.

Metabolic Disorder	Ophthalmic Findings
Sphingolipidoses	Cherry-red spot develops in macula due to opacification of retinal ganglion cell layer around normal fovea. - Seen in Tay-Sachs, Sandhoff variant, generalized gangliosidosis, and Niemann-Pick disease.
Refsum Disease	Secondary pigmentary retinal degeneration mimics retinitis pigmentosa.
Abetalipoproteinemia	Progressive retinitis pigmentosa-like retinal degeneration occurs.
Mucopolysaccharidoses	Progressive pigmentary retinal degeneration occurs in Hurler, Hunter, Scheie, and Sanfilippo syndromes.
Tyrosinase Deficiency	Ocular albinism presents with foveal hypoplasia and poor vision.