Leber congenital tapetoretinal degeneration

Introduction: Leber congenital tapetoretinal degeneration

Description of Leber congenital tapetoretinal degeneration

Leber congenital tapetoretinal degeneration: Total or nearly total blindness present at birth or shortly thereafter. The fundus may appear normal at birth but pigmentary changes similar to those seen in retinitis pigmentosa take place later in life. Ocular complications may include atrophic changes, cataract, keratoconus, absence of the rods and cones, hyperopia, microphthalmia, optic disk edema, nystagmus, photophobia, and Enophthalmos may occur due to digital self stimulation. Some patients show psychomotor retardation, sensory hearing loss, hypotonia, and various neurological disorders.
Source: Diseases Database

Leber congenital tapetoretinal degeneration: Related Topics

These medical condition or symptom topics may be relevant to medical information for Leber congenital tapetoretinal degeneration:

• Tapetoretinal degeneration
• Leber
• Congenital
• Congenital disease
• Congenital disorder
• Tapetoretinal
• Degeneration
• Blindness (496 causes)
• Present
• Birth

Terms associated with Leber congenital tapetoretinal degeneration:

Terms Similar to Leber congenital tapetoretinal degeneration:

• Leber amaurosis

Source: Diseases Database

External links related to: Leber congenital tapetoretinal degeneration

• OMIM - LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1
• OMIM - LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2
• GeneReviews: Leber Congenital Amaurosis
• Leber's congenital amaurosis (www.whonamedit.com)
• Search Jablonski's Syndromes Database

Source: Diseases Database

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