Myopia, AR, with Cataracts and Vitreoretinal Degeneration

Clinical Characteristics

Ocular Features:

Axial myopia and poor vision are noted during childhood. Most individuals have refractive errors in the range of-5 to -18 diopters with a mean spherical equivalent of -11.3 diopters. The axial length ranges from 25.1 and 30.5 mm. Peripheral vitreoretinal degeneration and cataracts are usually present after the onset of myopia. Lenticular opacities may necessitate cataract surgery in 11 of the 13 myopic patients in one kindred, usually by the second decade of life. Lens instability or frank subluxation was noted in 8 patients. At least five eyes suffered retinal detachments secondary to retinal dialyses and blindness of at least one eye occurred in 23% of patients.

Systemic Features:

Deafness was reported in a single patient.

Genetics

This condition results from homozygous mutations in the gene LEPREL1 [1] (3q28) encoding prolyl 3-hydroxylase. It was identified in a large consanguineous Israeli Bedouin kindred containing seven affected males and 6 affected females.

Treatment

Treatment Options:

Cataract and retinal surgery may be indicated. However, the instability of the lens can lead to complications. The nature and location of retinal tears likewise make repairs difficult and blindness is a relatively frequent complication.

References

Article Title:

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype [2]

Khan AO, Aldahmesh MA, Alsharif H, Alkuraya FS. Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype. Ophthalmic Genet. 2014 Dec 3:1-6.

PubMed ID:

25469533

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2 [3]

Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS. High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. Am J Hum Genet. 2011 Sep 9;89(3):438-45.

PubMed ID:

21885030