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Correspondence to Author: Frans P. M. Cremers, Camiel J. F. Boon, Kinga Bujakowska and Christina Zeitz. 

National Academy of Medical Sciences (NAMS), Bir Hospital, Nepal.

Abstract:

Clinically and genetically, inherited retinal diseases (IRDs) vary widely. Collectively, they are the most common cause of visual loss in people aged 15 to 45, with an estimated frequency of 1:2000 [1–3]. IRDs can be categorized clinically according to the course of the disease and the retinal cell types that play a major role in the pathophysiology of illness. They can be progressive, like in retinitis pigmentosa (RP), which is essentially a rod-cone dystrophy, as well as in cone-rod dystrophy (CRD) and Stargardt disease (STGD1), or stationary, like in the majority of cases with congenital stationary night blindness (CSNB) and achromatopsia (ACHM). The basic malfunction or degeneration of the rod or cone photoreceptor cells serves as the basis for a second group. We can differentiate between ACM, or color blindness [5], where one or more of the three types of cone cells are malfunctioning, and CSNB, which is a failure of retinal communication from rods and cones to bipolar cells [4].Cones are impacted first in those with CRD and STGD1, then rod degeneration. Accordingly, those who are impacted first get central visual abnormalities that spread to the mid-periphery. The opposite is true for people with RP: rod degeneration causes night blindness and tunnel vision as initial clinical symptoms. As the disease progresses, central vision can also be compromised when cones degenerate, ultimately resulting in legal blindness.In patients with CRD and STGD1, cones are affected first, followed by rod degeneration. As a result, persons affected initially experience central visual anomalies before they spread to the mid-periphery. In contrast, the first clinical indications of rod degeneration in RP patients are tunnel vision and night blindness. Cones may deteriorate as the condition worsens, impairing central vision and eventually leading to legal blindness.

Citation:

Dr. Frans P. M. Cremers, Special Issue Introduction: Inherited Retinal Disease:novel Candidate Genes, Genotype–Phenotype Correlations, And Inheritance Models. World Journal of Eating Disorders 2025.