Congenital amaurosis with hypertrichosis H35.5

Rare autosomal recessive inherited; congenital retinal dystrophy (with visual disturbances and pronounced photophobia without night blindness) in association with trichomegaly, bushy eyebrows with synophris and generalized hypertrichosis (Jalili IK 1989) The ophthalmological examination suggests a cone-rod type of congenital amaurosis.

Prevalence: <1 / 1 000 000

Mutations were found in the CNNM4 gene (missense, nonsense mutations; further: large deletions, single base insertions, and duplications) (Cherkaoui Jaouad I et al. 2017).

Childhood

The syndrome has been described in two cousins who both had blood relatives. A case of Jalli syndrome in combination with type I neurofibromatosis has been described. (Zobor D et al. 2012).

1. Cherkaoui Jaouad I et al (2017) Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome. Eur J Med Genet 60:239-244.
2. Jalili IK (2010) Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (Lond) 24:1659-1ussomal recessive 668.
3. Jalili IK (1989) Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. J Med Genet 26:504-510.
4. Zobor D et al (2012) Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1 Ophthalmic Genet 33:34-38.