Enhanced S-cone syndrome: Clinical spectrum in Indian population

Autor: Anmol U Naik, Jaydeep Walinjkar, Pradeep Susvar, Girish Shiva Rao, Muna Bhende, Chetan Rao, Parveen Sen, V Jayaprakash, Dhanashree Ratra, Daleena Dalan, Aniruddha Banerjee, Sourabh Jandyal
Rok vydání: 2019
Předmět:
Male
Retinal degeneration
genetic structures
Visual Acuity
Retinal Pigment Epithelium
Disease
Fundus (eye)
chemistry.chemical_compound
0302 clinical medicine
lcsh:Ophthalmology
Pathognomonic
Medicine
Fluorescein Angiography
Child
enhanced S-cone syndrome
medicine.diagnostic_test
Incidence
Eye Diseases
Hereditary
Child
Preschool
Retinal Cone Photoreceptor Cells
Original Article
Female
Erg
Tomography
Optical Coherence
Photopic vision
Adult
medicine.medical_specialty
Adolescent
Fundus Oculi
Vision Disorders
India
night blindness
Young Adult
03 medical and health sciences
stationary night blindness
Ophthalmology
Electroretinography
Humans
Retrospective Studies
business.industry
Retinal
medicine.disease
chemistry
lcsh:RE1-994
retinal degeneration
030221 ophthalmology & optometry
sense organs
business
030217 neurology & neurosurgery
Follow-Up Studies
Zdroj: Indian Journal of Ophthalmology, Vol 67, Iss 4, Pp 523-529 (2019)
Indian Journal of Ophthalmology
ISSN: 0301-4738
DOI: 10.4103/ijo.ijo_1480_18
Popis: Purpose: Enhanced S-cone syndrome (ESCS), a rare disorder, is often misdiagnosed as other forms of retinal degenerations, which have a poorer prognosis than ESCS. The aim of this study is to report the varied clinical features of ESCS and distinguish it from other similar disorders. Methods: We retrospectively scrutinized the records of patients with confirmed diagnosis of ESCS and analyzed the findings. Results: We included 14 patients (age range 4–39 years) who were confirmed to have ESCS according to pathognomonic electroretinography (ERG) showing reduced photopic, combined responses, and 30 Hz flicker with reduced L, M cone responses and supernormal S cone responses. The disease presented in the 1st decade with night blindness and was almost stationary or minimally progressive. Mid-peripheral fundus changes in form of nummular pigmentary alterations, yellow punctate lesions, and macular schisis were noted. The vision ranged from 6/6 to 6/36 with follow-up ranging from 1month to 22 years. Conclusion: ESCS shows varied clinical features ranging from unremarkable fundus to pigment clumping and atrophic lesions. It has good prognosis with patients mostly maintaining their vision. ERG is diagnostic. More awareness and knowledge about this entity can help to differentiate it from other forms of night blindness.
Databáze: OpenAIRE
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