Intrafamilial heterogeneity of congenital optic disc pit maculopathy

Autor: Francesco Testa, Ada Orrico, Settimio Rossi, Francesca Simonelli, Giuseppe De Rosa, Sandro Banfi, Francesco Maria D'Alterio
Přispěvatelé: Rossi, Settimio, DE ROSA, Giuseppe, D’Alterio, Francesco Maria, Orrico, Ada, Banfi, Sandro, Testa, Francesco, Simonelli, Francesca
Rok vydání: 2016
Předmět:
Male
Retinal Ganglion Cells
Visual acuity
Visual Acuity
Optic disk
Retinoschisis
Polymerase Chain Reaction
Nerve Fibers
0302 clinical medicine
Medicine
Eye Abnormalities
Fluorescein Angiography
Child
Genetic anticipation
Genetics (clinical)
medicine.diagnostic_test
Anatomy
Fluorescein angiography
Pedigree
medicine.anatomical_structure
030220 oncology & carcinogenesis
microperimetry
optic disc pit
Female
medicine.symptom
Tomography
Optical Coherence
Optic disc
Adult
medicine.medical_specialty
retinal serous detachment
mfERG
Optic Disk
maculopathy
Ophthalmoscopy
03 medical and health sciences
Ophthalmology
Electroretinography
Humans
Anticipation
Genetic
business.industry
Retinal Detachment
medicine.disease
macular schisi
MicroRNAs
Pediatrics
Perinatology and Child Health
030221 ophthalmology & optometry
Visual Field Tests
Maculopathy
Visual Fields
business
Microperimetry
Zdroj: Ophthalmic Genetics. 38:267-272
ISSN: 1744-5094
1381-6810
DOI: 10.1080/13816810.2016.1188120
Popis: Background: Optic disc pit is a very rare clinical entity. The main complication of this condition is the maculopathy. Report of cases: A 40-year-old Caucasian man and his 6-year-old daughter underwent a complete ophthalmological examination. In both cases ophthalmoscopy examination showed a bilateral white-yellow oval depression in the optic disc. Optical coherence tomography showed maculopathy with different degrees of severity in the two cases. Microperimetry and multifocal-electroretinography showed different degrees of retinal dysfunction in both cases. Molecular genetic analysis was performed and the possible pathogenic role of the MIR204 gene was excluded. Discussion: The findings of our familial cases support the hypothesis that optic disc pit associated with maculopathy could be a genetic disease with an autosomal dominant inheritance pattern. Optical coherence tomography is the most helpful diagnostic tool to assess maculopathy associated with optic disc pit. Microperimetry and multifocal-electroretinography are useful for the diagnosis of macular dysfunction in the early stages, and for the prognosis and follow-up of optic disc pit-maculopathy which is the main cause of visual impairment in these patients. Furthermore, in consideration of the variable expressivity and disease severity reported in our cases, genetic anticipation may be hypothesized.
Databáze: OpenAIRE
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