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Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
- Source :
-
Ophthalmic genetics [Ophthalmic Genet] 2021 Jun; Vol. 42 (3), pp. 243-251. Date of Electronic Publication: 2021 Feb 17. - Publication Year :
- 2021
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Abstract
- Background : To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation (absence of diffuse transillumination or transparent retinal pigment typical for albinism). Methods : This is a retrospective, multicenter study of ophthalmic, systemic, and genetic features, as collected from medical records of patients diagnosed with infantile nystagmus and foveal hypoplasia. Ophthalmic findings include best-corrected visual acuity (BCVA), biomicroscopic examination, cycloplegic refraction, retinal examination, macular optical coherence tomography, and electroretinography. Genetic information was retrieved from the participating genetic clinics and included ethnicity and molecular diagnosis. Results : Thirty-one individuals met the inclusion criteria and had a secure molecular diagnosis. Mutations in two genes predominated, constituting 77.4% of all the represented genes: SLC38A8 (45.1%) and PAX6 (32.3%). Seventy-eight percent of the subjects who had a measurable BCVA had moderate and severe visual impairment (range 20/80 to 20/270). Most patients with a mutation in SLC38A8 had mild to moderate astigmatism, while most patients with PAX6 mutation had moderate and severe myopia. Patients in the PAX6 group had variable degrees of anterior segment manifestations. Conclusion : In our cohort, the main causative genes for congenital nystagmus and foveal hypoplasia in normally pigmented eyes were SLC38A8 and PAX6 . A mild phenotype in PAX6 mutations may be an under-diagnosed cause of nystagmus and foveal hypoplasia. Reaching an accurate genetic diagnosis is essential for both the patients and their family members. This enables predicting disease prognosis, tailoring correct follow-up, and providing genetic counseling and family planning to affected families.
- Subjects :
- Adolescent
Adult
Aged
Albinism genetics
Astigmatism genetics
Child
Child, Preschool
Cytoskeletal Proteins genetics
Eye Abnormalities diagnosis
Female
Humans
Infant
Male
Membrane Proteins genetics
Myopia genetics
Nystagmus, Congenital diagnosis
Retrospective Studies
Slit Lamp Microscopy
Vision, Low diagnosis
Vision, Low physiopathology
Young Adult
Amino Acid Transport Systems, Neutral genetics
Eye Abnormalities genetics
Fovea Centralis abnormalities
Nystagmus, Congenital genetics
PAX6 Transcription Factor genetics
Vision, Low genetics
Visual Acuity physiology
Subjects
Details
- Language :
- English
- ISSN :
- 1744-5094
- Volume :
- 42
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Ophthalmic genetics
- Publication Type :
- Academic Journal
- Accession number :
- 33594928
- Full Text :
- https://doi.org/10.1080/13816810.2021.1888128