Daniel J. Karr

Screening Examination of Premature Infants for Retinopathy of Prematurity

This statement revises a previous statement on screening of preterm infants for retinopathy of prematurity (ROP) that was published in 2006. ROP is a pathologic process that occurs only in immature retinal tissue and can progress to a tractional retinal detachment, which can result in functional or complete blindness. Use of peripheral retinal ablative therapy by using laser photocoagulation for nearly 2 decades has resulted in a high probability of markedly decreasing the incidence of this poor visual outcome, but the sequential nature of ROP creates a requirement that at-risk preterm infants be examined at proper times and intervals to detect the changes of ROP before they become permanently destructive. This statement presents the attributes on which an effective program for detecting and treating ROP could be based, including the timing of initial examination and subsequent reexamination intervals.

Instrument-based pediatric vision screening policy statement.

A policy statement describing the use of automated vision screening technology (instrument-based vision screening) is presented. Screening for amblyogenic refractive error with instrument-based screening is not dependent on behavioral responses of children, as when visual acuity is measured. Instrument-based screening is quick, requires minimal cooperation of the child, and is especially useful in the preverbal, preliterate, or developmentally delayed child. Children younger than 4 years can benefit from instrument-based screening, and visual acuity testing can be used reliably in older children. Adoption of this new technology is highly dependent on third-party payment policies, which could present a significant barrier to adoption.

Joint statement - Learning disabilities, dyslexia, and vision

Learning disabilities, including reading disabilities, are commonly diagnosed in children. Their etiologies are multifactorial, reflecting genetic influences and dysfunction of brain systems. Learning disabilities are complex problems that require complex solutions. Early recognition and referral to qualified educational professionals for evidence-based evaluations and treatments seem necessary to achieve the best possible outcome. Most experts believe that dyslexia is a language-based disorder. Vision problems can interfere with the process of learning; however, vision problems are not the cause of primary dyslexia or learning disabilities. Scientific evidence does not support the efficacy of eye exercises, behavioral vision therapy, or special tinted filters or lenses for improving the long-term educational performance in these complex pediatric neurocognitive conditions. Diagnostic and treatment approaches that lack scientific evidence of efficacy, including eye exercises, behavioral vision therapy, or special tinted filters or lenses, are not endorsed and should not be recommended.

Retrolental Fibroplasia: Experience Over Two Decades in One Institution

We examined 1,849 consecutively admitted premature infants weighing 2000 gm or less at birth for retrolental fibroplasia (RLF). Proliferative RLF was diagnosed frequently in low birth weight infants who were more likely to survive with modern neonatal intensive care. Cicatricial RLF was more likely to result from proliferative RLF and to be more severe in lower birth weight infants, but most affected eyes retained useful vision. Comparison of cases diagnosed over the 20 years of this study suggest that cicatricial RLF in recent years is less likely to result in severe visual disability. Improving survival rates for lower birth weight infants mandate continued surveillance for RLF and study of improved oxygen monitoring techniques.

Radial Keratotomy Complicated by Sterile Keratitis and Corneal Perforation: Histopathologic Case Report and Review of Complications

A 35-year-old physician had radial keratotomy (RK) for correction of myopia. Combined radial and transecting circumferential incisions were used which resulted in wound gape, persistent epithelial defect, and severe sterile keratitis. Progressive corneal decompensation required an initial patch graft followed by a penetrating keratoplasty four months after RK. Histopathology of the cornea demonstrated epithelial edema and persistent incisional epithelial plug formation, deep and superficial vascularization, variable incision depth (superficial to full thickness), endothelial cell loss, and inflammatory cell infiltration at all levels of the cornea. A review of the reported complications of RK is included in the discussion of this case.

Retinal morphology of patients with achromatopsia during early childhood: Implications for gene therapy

IMPORTANCE While older children and adults with achromatopsia have been studied, less is known of young children with achromatopsia. OBJECTIVES To characterize the macular and foveal architecture of patients with achromatopsia during early childhood with handheld spectral-domain optical coherence tomographic imaging and to make phenotype-genotype correlations. DESIGN, SETTING, AND PARTICIPANTS Comparative case series of 9 patients with achromatopsia and 9 age-matched control participants at a tertiary ophthalmology referral center. MAIN OUTCOMES AND MEASURES Patients underwent complete ocular examination, full-field electroretinography, handheld spectral-domain optical coherence tomographic imaging, and screening for genetic mutations. RESULTS The mean (SD) age of the patients with achromatopsia was 4.2 (2.4) years, and the mean (SD) age of the control participants was 4.0 (2.1) years. Cone-driven responses to photopic single-flash or 30-Hz stimuli were nonrecordable in 7 patients and severely attenuated in 2. Rod-driven responses to dim scotopic single-flash stimuli were normal in 7 patients and mildly subnormal in 2. Six patients (67%) had foveal ellipsoid zone disruption, of which 1 had a hyporeflective zone. Four patients (44%) had foveal hypoplasia. The average total retinal thicknesses of the macula and fovea in the patients with achromatopsia were 14% and 17% thinner than in the control participants (P < .001 and P = .001), which was mostly due to the outer retina that was 18% and 26% thinner than in control participants (both P < .001), respectively. Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia. The youngest and worst-affected patient harbored compound heterozygous mutations in CNGB3 and a single mutation in CNGA3. CONCLUSIONS AND RELEVANCE In early childhood, there is a spectrum of foveal pathology that is milder than reported in older individuals with achromatopsia, which suggests the need for early therapeutic intervention. Neither age alone nor genotype alone predicts the degree of photoreceptor loss or preservation. Thus, in anticipation of future gene therapy trials in humans, we propose that handheld spectral-domain optical coherence tomography is an important tool for the early assessment and stratification of macular architecture in young children with achromatopsia.

An Unusual Case of Cellulitis Associated With a Molteno Implant in a 1-Year-Old Child

The Molteno seton implant has recently been used in pediatric patients with advanced childhood glaucoma, who would otherwise have been treated with cyclodestructive surgery. We report a case of Molteno implant (first stage) associated with orbital cellulitis in a 1-year-old child. The presence of the implant was initially unrecognized until, in the course of evaluation for orbital cellulitis, computerized tomography of the orbit suggested a foreign body. We believe this is the first report of a complication associated with the first stage of this procedure.

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia

ABSTRACT Background: Cobalamin C disease (cblC), which leads to methylmalonic acidemia with homocystinuria, is the most common inherited disorder of vitamin B12 metabolism. Reported ocular findings associated with cblC have been maculopathy, pigmentary retinopathy, and optic nerve atrophy. Cobalamin A disease (cblA) which causes an isolated methylmalonic acidemia without homocystinuria is rarer than cblC. This is the first detailed report of the ocular findings associated with cblA. We also describe the spectrum of ocular findings in our cblC patients. Materials and methods: A case series describing the ophthalmologic clinical course of six patients with a diagnosis of cobalamin C type and one patient with cobalamin A type of methylmalonic acidemia. Patients were diagnosed through biochemical laboratory testing and genetic analysis was conducted on most patients. Longitudinal fundus findings, optical coherence tomography (OCT), autofluorescence, and electrophysiology were followed in the patients. Results: The cblA patient demonstrated a relatively mild ocular phenotype with late-onset and slowly progressing temporal disc pallor and peripapillary atrophy in the second decade of life. The patient maintained good visual acuity and central vision, without evidence of maculopathy. The six cblC patients demonstrated a range of ocular findings from unremarkable and mild phenotypes to significant retinopathy, including bull’s eye maculopathy, severe maculopathy with punched out chorioretinal atrophy, peripheral bone spicules, and optic nerve atrophy. Conclusions: The spectrum of ocular manifestations seen with inherited disorders of cobalamin metabolism is wide, ranging from mild optic nerve atrophy to severe macular or retinal degeneration. This heterogeneity may in part reflect the associated biochemical phenotype, such as that observed between our cblA and cblC patients. We also observed heterogeneity within the cblC type in agreement with previous reports.

Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

Purpose We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration. Conclusions and importance Patients with HVDAS are known to have abnormal visual behavior due to refractive or cortical impairment. However, we present the first description, to our knowledge, of an association with retinal mal-development and degeneration. Thus, patients with HVDAS should be referred for ophthalmic genetics evaluation, and HVDAS should be on the differential diagnosis for young children with global developmental delay who present with nystagmus, rod and cone dysfunction with electronegative waveform, and relative lack of severe structural degeneration on optical coherence tomography.

Phakomatoses-Neurocutaneous Syndromes

The phakomatoses are a heterogeneous group of neurocutaneous syndromes with hamartomas in multiple organ systems including skin and the central nervous system. The phakomatoses are neurofibromatosis type 1, neurofibromatosis type 2, tuberous sclerosis, cerebroretinal angiomatosis, encephalotrigeminal angiomatosis, ataxia-telangiectasia, incontinentia pigmenti, racemose angioma and hemangiectatic hypertrophy. This chapter will discuss the systemic and ocular findings for each of these disorders.