Academic Appointments

Research & Scholarship

Current Research and Scholarly Interests

Gene linkage - tuberous sclerosis; stabismus and, molteno implants; congenital stationary night blindness


2020-21 Courses


All Publications

  • Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus Drack, A. V., Utz, V. M., Wang, K., Alcorn, D. M., Brooks, B. P., Costakos, D. M., Couser, N. L., Heon, E., Levin, A. V., Lloyd, I. C., Morse, C. L., Schmitt, M. A., Whitman, M. C., Traboulsi, E. I. 2019


    To better understand AAPOS member pediatric ophthalmologists' knowledge and needs regarding genetic eye disorders, the AAPOS Genetic Eye Disease Task Force developed a 16-question survey that was circulated to national and international AAPOS members. Responses to questions on practice patterns, baseline knowledge, and educational interests regarding patients with suspected ophthalmic genetic disorders were collected. A majority of respondents (93%) evaluate patients with suspected genetic disorders. Knowledge gaps were present in heritability of certain conditions, genetic testing strategies, and referral to clinical trials. Most respondents expressed interest in further education in these areas. A model for care is proposed as a first step in the education process.

    View details for DOI 10.1016/j.jaapos.2019.04.005

    View details for PubMedID 31233830

  • Prenatal treatment of ornithine transcarbamylase deficiency. Molecular genetics and metabolism Wilnai, Y., Blumenfeld, Y. J., Cusmano, K., Hintz, S. R., Alcorn, D., Benitz, W. E., Berquist, W. E., Bernstein, J. A., Castillo, R. O., Concepcion, W., Cowan, T. M., Cox, K. L., Lyell, D. J., Esquivel, C. O., Homeyer, M., Hudgins, L., Hurwitz, M., Palma, J. P., Schelley, S., Akula, V. P., Summar, M. L., Enns, G. M. 2018


    Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and dietary therapy is still poor. The combination of intravenous sodium phenylacetate and sodium benzoate (AmmonulŪ) can eliminate nitrogen waste independent of the urea cycle. We report attempts to improve outcomes for males with severe ornithine transcarbamylase deficiency (OTCD), a severe X-linked condition, via prenatal intravenous administration of Ammonul and arginine to heterozygous carrier females of OTCD during labor.Two heterozygote OTCD mothers carrying male fetuses with a prenatal diagnosis of OTCD received intravenous Ammonul, arginine and dextrose-containing fluids shortly before birth. Maintenance Ammonul and arginine infusions and high-caloric enteral nutrition were started immediately after birth. Ammonul metabolites were measured in umbilical cord blood and the blood of the newborn immediately after delivery. Serial ammonia and biochemical analyses were performed following delivery.Therapeutic concentrations of Ammonul metabolites were detected in umbilical cord and neonatal blood samples. Plasma ammonia and glutamine levels in the postnatal period were within the normal range. Peak ammonia levels in the first 24-48h were 53mcmol/l and 62mcmol/l respectively. The boys did not experience neurological sequelae secondary to hyperammonemia and received liver transplantation at ages 3months and 5months. The patients show normal development at ages 7 and 3years.Prenatal treatment of mothers who harbor severe OTCD mutations and carry affected male fetuses with intravenous Ammonul and arginine, followed by immediate institution of maintenance infusions after delivery, results in therapeutic levels of benzoate and phenylacetate in the newborn at delivery and, in conjunction with high-caloric enteral nutrition, prevents acute hyperammonemia and neurological decompensation. Following initial medical management, early liver transplantation may improve developmental outcome.

    View details for PubMedID 29396029

  • Peripheral Avascular Retina in a Term Male Neonate With Microvillus Inclusion Disease and Pancreatic Insufficiency OPHTHALMIC SURGERY LASERS & IMAGING RETINA Paulus, Y. M., Alcorn, D. M., Gaynon, M., Moshfeghi, D. M. 2015; 46 (5): 589-591


    The authors present the first case of peripheral avascular retina in a term male neonate with pancreatic exocrine insufficiency, atypical microvillus inclusion disease, flat tympanograms, and recurrent urinary tract infections. Clinical examination showed avascular peripheral retina to posterior zone II temporally, with a flat stage 1-like demarcation line, and no plus disease. Genetic testing results were normal. The patient developed peripheral neovascularization and underwent panretinal photocoagulation. This case likely represents mild Norrie disease, familial exudative vitreoretinopathy, or incontinentia pigmenti due to a Wnt signaling abnormality. While these conditions are usually more severe, a variable spectrum of Wnt abnormalities exists throughout the body.

    View details for DOI 10.3928/23258160-20150521-14

    View details for Web of Science ID 000359292500014

    View details for PubMedID 26057766

  • Partial rectus muscle-augmented transpositions in abduction deficiency 28th Annual Meeting of the American-Association-for-Pediatric-Ophthalmology-and-Strabismus Britt, M. T., Velez, F. G., Thacker, N., Alcorn, D., Foster, R. S., Rosenbaum, A. L. MOSBY-ELSEVIER. 2003: 325?32


    Lateral posterior fixation sutures increase the effect of full rectus extraocular muscle transpositions. Partial rectus muscle transposition may be indicated to minimize the risk of anterior ischemia when multiple rectus muscles require surgery to achieve ocular alignment.To report a modification of full vertical rectus muscle transposition with lateral posterior fixation sutures for use in patients at risk for anterior segment ischemia.Ten cases of unilateral split rectus muscle transposition augmented with lateral posterior fixation sutures were analyzed. Five patients had Duane's syndrome with esotropia in primary position, and five patients had sixth-nerve palsy.Seven patients had a history of ipsilateral rectus muscle surgery, and three patients underwent simultaneous surgery on ipsilateral horizontal rectus muscles. In Duane's syndrome patients, the preoperative angle of deviation at distance was 15.8 +/- 5.8 prism diopters (PD) (range, 10 to 25) compared with 3.2 +/- 4.4 PD (range, 0 to 8) postoperatively (P =.005). In patients with sixth-nerve palsy, the preoperative angle of deviation at distance was 45.2 +/- 23.9 PD (range, 16 to 80) compared with -5 +/- 14.1 PD (range, -30 to 5) postoperatively (P =.004). Postoperative binocular single visual fields enlarged in seven of seven patients.Partial rectus muscle-augmented transposition allows surgery on multiple ipsilateral rectus muscles in (1) Duane's syndrome patients with esotropia, marked cocontraction, and/or limitation to both horizontal rotations and in (2) sixth-nerve palsy patients with ipsilateral medial rectus tightness. Augmented partial rectus muscle transpositions improve ocular alignment and may enlarge binocular single fields in patients with persistent deviations despite previous muscle surgery.

    View details for DOI 10.1016/S1091-8531(03)00180-0

    View details for Web of Science ID 000185922100006

    View details for PubMedID 14566314

  • Congenital circumscribed choroidal haemangioma associated with infantile hepatic haemangioendotheliomatosis BRITISH JOURNAL OF OPHTHALMOLOGY Shaikh, S., Sanislo, S., O'Brien, J. M., Alcorn, D. 2001; 85 (5): 626-626

    View details for Web of Science ID 000168325900031

    View details for PubMedID 11351971

    View details for PubMedCentralID PMC1723976

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