IllnessMacular dystrophy, occult

NGS +

Occult macular dystrophy (OMD) is a rare, dominantly inherited, progressive retinal degeneration with deterioration of central vision and normal fundus. The cones appear to be affected earlier or in less severe cases. In advanced cases, the macular rod function is also affected. Patients show gradually decreasing visual acuity or central scotoma. The onset of symptoms varies, with an average age of 25-30 years. Half of patients suffer from photophobia at some point. OMD is divided into RP1L1 gene-associated OMD, other hereditary OMD caused by non-RP1L1 mutations and non-hereditary OMD. In patients with normal appearing fundus and visual deterioration, the differential diagnosis includes other retinal degenerations, cone dystrophy, early ABCA4-associated retinopathy, optic neuropathy and amblyopia. In most patients, visual acuity appears to deteriorate slowly over 10-15 years and then remain stable. RP1L1 mutations have also been associated with autosomal recessive retinitis pigmentosa and cone dystrophy. Since only 50% of patients with OMD have a detectable genetic cause, a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1417/

• Alias: Central cone dystrophy
• Alias: Zentrale Zapfendystrophie
• Allelic: Retinitis pigmentosa 88 (RP1L1)
• Occult macular dystrophy (RP1L1)