Optic Atrophy 10

Clinical Characteristics
Ocular Features: 

Low vision is noted in early childhood without systemic symptoms.  The optic nerves appear pale (age of onset uncertain).  The retinal nerve fiber layer may be reduced in thickness in all quadrants but only segmentally in some individuals.  No VEP can be recorded.  On brain MRI examination the optic tracts are thin.  The appearance of the optic nerve is consistent with mild hypoplasia in some patients.

Systemic Features: 

Some patients have ataxia, cognitive deficits, and seizures.  A brother and sister from a consanguineous Moroccan family and two unrelated individuals have been reported.  

Genetics

This autosomal recessive condition is caused by homozygous or compound heterozygous mutations in the RTN4IP1 gene.

Treatment
Treatment Options: 

No treatment is known.

References
Article Title: 

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Megy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. Am J Hum Genet. 2015 Nov 5;97(5):754-60. 

PubMed ID: 
26593267

References

Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Megy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. Am J Hum Genet. 2015 Nov 5;97(5):754-60. 

PubMedID: 26593267