Author: Belen Figuerola Garcia (Spain)
Co-authors: Angela Gonzalez Alonso, David Ismael Gijón Carretero, Gerardo Pedro Garcia Garcia, Angi Lizbeth Mendoza Moreira, Juan José Pérez Santonja
Purpose
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences. Progress in finding treatments is dependent on determining the genes and mutations causing these diseases, which includes both gene discovery and mutation screening in affected individuals and families. Diagnostic confirmation, as well as knowledge of the inheritance pattern, will be useful for counseling, family planning and prognosis of these patients.
Setting/Venue
Department of Ophthalmology, Alicante University General Hospital, Alicante Institute for Health and Biomedical Research (ISABIAL), Alicante, Spain.
Methods
We report the case of a 65-year-old man with a personal history of decreased best-corrected visual acuity (BCVA) in both eyes (BE) and night blindness since childhood. Cataract surgery in BE 18 years ago. Ocular evaluation included a BCVA study, slit-lamp biomicroscopy (SLB), intraocular pressure (IOP), fundoscopy, spectral domain-optical coherence tomography (SD-OCT), electrophysiological study including electroretinography (ERG) and visual evoked potentials (VEP) and genetic testing using a panel (Next Generation sequencing ‐ based gene panel) of 26 genes.
Results
Ophthalmological examinations reveals a BCVA of 0.3 in right eye and 0.3 in left eye. IOP of 18 in the right eye (RE) and 17 in the left eye (LE). In the SLB, he presents a mild posterior capsular opacity. Dilated fundus examination reveals an alteration in periferial retina like bone spicules and atrophy of the retinal pigment epithelium (RPE). In SD-OCT, bilateral macular atrophy of photorreceptors lines and RPE. In electrophysiological tests, scotopic ERG visual responses and visual responses by flash visual evoked potentials (FVEP) are compatible with the clinical impression of retinitis pigmentosa (RP). Under clinical and electrophysiological suspicion of RP, a dual-purpose genetic study is performed, making the diagnostic confirmation of the condition and ruling out the presence of syndromic involvement of the patient. Genetic testing showed a complex pattern, revealing the homozygous mutation c.119-2A>C; p. And heterozygous mutation in SEMA4A gen, PRPF4 gen, RHO gen and RGS9 gen, findings compatible with retinitis pigmentosa with transmission autosomal recessive.
Conlusions
This report emphasizes the value of a genetic study as a useful tool to carry out an accurate clinical diagnosis in HRDs and establish syndromic associations. It is helpful to have a test that allows us to clarify a diagnosis, request additional tests and systemic studies based on the findings, and prepare a correct advice for family planning and prognosis to patients and relatives.
Financial Disclosure
NO
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