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2013 ; 131
(10
): 1324-30
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Expanded clinical spectrum of enhanced S-cone syndrome
#MMPMID23989059
Yzer S
; Barbazetto I
; Allikmets R
; van Schooneveld MJ
; Bergen A
; Tsang SH
; Jacobson SG
; Yannuzzi LA
JAMA Ophthalmol
2013[Oct]; 131
(10
): 1324-30
PMID23989059
show ga
IMPORTANCE: New funduscopic findings in patients with enhanced S-cone syndrome
(ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal
dystrophy. OBJECTIVE: To expand the clinical spectrum of ESCS due to mutations in
the NR2E3 gene. DESIGN: Retrospective, noncomparative case series of 31 patients
examined between 1983 and 2012. SETTING: Academic and private ophthalmology
practices specialized in retinal dystrophies. PARTICIPANTS: A cohort of patients
diagnosed with ESCS and harboring known NR2E3 mutations. INTERVENTION: Patients
had ophthalmic examinations including visual function testing that led to the
original diagnosis. MAIN OUTCOMES AND MEASURES: New fundus features captured with
imaging modalities. RESULTS: New clinical observations in ESCS include (1)
torpedo-like, deep atrophic lesions with a small hyperpigmented rim, variably
sized and predominantly located along the arcades; (2) circumferential fibrotic
scars in the posterior pole with a spared center and large fibrotic scars around
the optic nerve head; and (3) yellow dots in areas of relatively normal-appearing
retina. CONCLUSIONS AND RELEVANCE: Enhanced S-cone syndrome has more pleiotropy
than previously appreciated. While the nummular type of pigmentation at the level
of the retinal pigment epithelium and cystoid or schisis-like maculopathy with
typical functional findings remain classic hallmarks of the disease, changes such
as circumferential fibrosis of the macula or peripapillary area and
"torpedo-like" lesions along the vascular arcades may also direct the clinical
diagnosis and focus on screening the NR2E3 gene for a molecular diagnosis.
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