Ashwin Mallipatna

Look what else we found - clinically significant abnormalities detected during routine ROP screening

Purpose: The purpose of this study was to report the spectrum of anterior and posterior segment diagnoses in Asian Indian premature infants detected serendipitously during routine retinopathy of prematurity (ROP) screening during a 1 year period. Methods: A retrospective review of all Retcam (Clarity MSI, USA) imaging sessions during the year 2011 performed on infants born either <2001 g at birth and/or <34.1 weeks of gestation recruited for ROP screening was performed. All infants had a minimum of seven images at each session, which included the dilated anterior segment, disc, and macula center and the four quadrants using the 130° lens. Results: Of the 8954 imaging sessions of 1450 new infants recruited in 2011, there were 111 (7.66%) with a diagnosis other than ROP. Anterior segment diagnoses seen in 31 (27.9%) cases included clinically significant cataract, lid abnormalities, anophthalmos, microphthalmos, and corneal diseases. Posterior segment diagnoses in 80 (72.1%) cases included retinal hemorrhages, cherry red spots, and neonatal uveitis of infective etiologies. Of the 111 cases, 15 (13.5%) underwent surgical procedures and 24 (21.6%) underwent medical procedures; importantly, two eyes with retinoblastoma were detected which were managed timely. Conclusions: This study emphasizes the importance of ocular digital imaging in premature infants. Visually significant, potentially life-threatening, and even treatable conditions were detected serendipitously during routine ROP screening that may be missed or detected late otherwise. This pilot data may be used to advocate for a possible universal infant eye screening program using digital imaging.

Genetic perspective of retinoblastoma: From present to future

Retinoblastoma (RB) is the most common malignant intraocular tumor in children. In the last decade, basic research has led to a better understanding of events after two hits in RB susceptibility gene (RB1), molecular mechanism of tumor growth, the cell of origin of RB, etc. This would pave way to identify biomarkers and molecular targeted therapy for better treatment option in the future. Furthermore, improvement in molecular techniques has led to enhanced diagnostic methods for early diagnosis, genetic counseling, and prevention of the disease. This review will help to understand the essence of basic research work conducted in recent times and its implication in the management of RB in the future.

Melanoma associated retinopathy: A new dimension using adaptive optics.

We report a 56-year-old male patient, complaining of metamorphopsia in his left eye nevertheless visual acuity, slit lamp, and fundus examinations were within normal limits. Microperimetry (MAIA, Centervue, Italy) revealed central field loss and spectral domain optical coherence tomography (Spectralis, Heidelberg, Germany) showed disrupted cone outer segment tip layer. The patient had a diagnosis of cutaneous melanoma in his foot for which an excision biopsy with lymph node dissection was performed 5 months earlier. Our clinical diagnosis was melanoma-associated retinopathy. Electrophysiology confirmed the diagnosis. Adaptive optics retinal imaging (Imagine eyes, Orsay) was performed to assess the cone mosaic integrity across the central retina. This is the first report on the investigation of autoimmune retinopathy using adaptive optics ophthalmoscopy. This case highlights the viability of innovative diagnostic modalities that aid early detection and subsequent management of vision threatening retinal.

Challenges of managing retinal dystrophies: An experience from south India

Generally considered as ‘rare’ or ‘orphan’ diseases, retinal dystrophies are highly prevalent in India, in part because of the high rate of consanguinity. For example, the prevalence of retinitis pigmentosa in the US is estimated to be 1 in 3500, compared to an estimate of 1 in 372–930 in southern India. This is similar to the situation in other Asian countries, like Pakistan. As opposed to Western countries, the clinical science of eye genetics and the practice of genetic counseling are still developing specialties in India. Physicians/genetic counselors who are specialized or trained to deal with these conditions are scarce. Molecular genetic testing is either inaccessible or unaffordable to the majority of patients. Consanguinity and arranged marriages are an accepted norm, especially in southern India. In addition, opportunities for rehabilitation of severely visually impaired persons are limited. Consequently, managing patients with retinal dystrophies presents specific clinical and psychosocial challenges in India.