Novel retinal finding in a patient with 4q12 deletion
| Autor: | Alessandra Renieri, Theodora Hadjistilianou, Mario Fruschelli, Nicola Lorusso, Mirella Bruttini, Alessandro Di Maggio, Marco Mandalà, Maria Antonietta Mencarelli |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
hypoacusia
Adult medicine.medical_specialty Visual acuity Posterior pole Visual Acuity Retinal Pigment Epithelium Multimodal Imaging Retina chemistry.chemical_compound Young Adult Depigmentation Ophthalmology medicine Blue sclerae Humans 4q12 deletion RPE detachment piebaldism Fluorescein Angiography Genetics (clinical) Retinal pigment epithelium business.industry Piebaldism Retinal medicine.disease eye diseases medicine.anatomical_structure chemistry Pediatrics Perinatology and Child Health Female sense organs medicine.symptom Chromosome Deletion business Poliosis Tomography Optical Coherence |
| Zdroj: | Ophthalmic genetics. 43(1) |
| ISSN: | 1744-5094 |
| Popis: | Background Chromosome 4q deletions are rare disorders phenotypically characterized by several features. The most commonly described ocular abnormalities include unilateral microphthalmia with bilateral colobomata, blue sclerae with pigmented retinal clumps, hypermetropia, and a divergent squint. Purpose To report a case of 4q12 deletion with a singular retinal feature. Materials and methods Case report. Results A 20-year-old Caucasian female with a history of poliosis, progressive appearance of small areas of skin depigmentation along trunk and limbs since birth and diagnosis of learning deficit was referred for a complete ocular examination. The genetic counseling showed microdeletion in the 4q12 region. An audiometric test was performed, showing a progressive bilateral neurosensorial hypoacusia. Ocular examination showed the presence of multifocal, tiny, whitish deposits in the posterior pole. Multimodal imaging defined the lesions as small elevations of the retinal pigment epithelium with slight hyper-autofluorescence and staining in the late phase of fluoresceine angiography (FA). Visual acuity was 20/20. The retinal findings did not change during the three-month follow-up. Conclusions Although the findings herein reported have never been described before in patients affected by 4q12 mutations, we do not exclude that they could represent a manifestation of the peculiar genetic asset of the patient, related to dysfunction in pigment epithelium/neuroretinal metabolic activity. |
| Databáze: | OpenAIRE |
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