Enhanced S-cone syndrome: Clinical spectrum in Indian population

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.

An echocardiographic study of net atrioventricular compliance in juvenile and adult mitral stenosis.

BACKGROUND: Left atrial compliance is an important determinant of symptoms in mitral stenosis. About one-third of patients with mitral stenosis have reduced left ventricular compliance. We measured the net atrioventricular compliance in rheumatic mitral stenosis patients noninvasively and analyzed if there were any clinical, electrocardiographic, roentgenographic or echocardiographic correlates of net atrioventricular compliance. METHODS AND RESULTS: Seventy-six patients with mitral stenosis were analyzed and as many normal subjects were taken as control group. Patients were divided into two groups--those 20 years and below were grouped as juvenile mitral stenosis and those above 20 years as adult mitral stenosis patients. The net atrioventricular compliance in patients with mitral stenosis was significantly impaired compared to normal population. Mean compliance in juvenile group was 4.66+/-2.18 ml/mmHg (range 2.17-9.6) and in adult group it was 4.79+/-1.99 ml/mmHg (range 2.04-8.9) (p = ns). There was no difference in net atrioventricular compliance between the juvenile and adult patients with mitral stenosis. Mitral valve area showed an independent positive correlation with net atrioventricular compliance. CONCLUSIONS: The net atrioventricular compliance was significantly reduced in patients with rheumatic mitral stenosis; however, there was essentially no difference in the net atrioventricular compliance between the juvenile and adult patients with mitral stenosis. The net atrioventricular compliance may not be responsible for the more severe symptoms observed in juvenile mitral stenosis.