Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium.

PURPOSE: To report the clinical and imaging findings of 4 patients with benign intraretinal tumors, 2 of which were associated with retinal pigment epithelium (RPE) hypertrophy. To our knowledge, this condition has not been described previously and should be distinguished from retinoblastoma and other malignant retinal neoplasms. DESIGN: Retrospective case series. PARTICIPANTS: Four patients from 3 institutions. METHODS: Four patients with intraretinal tumors of the inner nuclear layer (INL) underwent a combination of ophthalmic examination, fundus photography, fluorescein angiography, OCT, OCT angiography, and whole exome sequencing. MAIN OUTCOME MEASURES: Description of multimodal imaging findings and systemic findings from 4 patients with benign intraretinal tumors and whole exome studies from 3 patients. RESULTS: Six eyes of 4 patients 5, 13, 32, and 27 years of age were found to have white intraretinal tumors that remained stable over the follow-up period (range, 9 months-4 years). The tumors were unilateral in 2 patients and bilateral in 2 patients. The tumors were white, centered on the posterior pole, and multifocal, with some consisting of multiple lobules with arching extensions that extended beyond the central tumor mass. OCT demonstrated these lesions to be centered within the INL at the border of the inner plexiform layer. In addition, 2 patients demonstrated congenital hypertrophy of the RPE (CHRPE) lesions. Three of 4 patients underwent whole exome sequencing of the blood that revealed no candidate variants that plausibly could account for the phenotype. CONCLUSIONS: We characterize a novel benign tumor of the INL that, in 2 patients, was associated with separate CHRPE lesions. We propose the term benign lobular inner nuclear layer proliferation to describe these lesions. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

Reading difficulties and the pediatric ophthalmologist.

Approximately 20% of children have dyslexia, a language-based reading disability. A variation in language processing in the brain leads to a deficit in phonological (auditory) processing, which leads to problems in learning to read, write, and spell. Myths continue to exist regarding dyslexia and vision, and although eye and vision problems may coexist with dyslexia, they are not more prevalent than in the general population. Rarely vision problems may make reading at near very difficult and may masquerade as a learning problem or attention deficit disorder/attention deficit hyperactivity disorder. The pediatric ophthalmologist can play a valuable role in determining whether any eye or vision problems exist that might interfere with learning or reading. Treatments to improve these eye conditions may help make reading more comfortable, but they are not a therapy for coexisting dyslexia. The use of vision therapy has never been shown scientifically to be effective and may prevent the application of effective interventions during the critical period of development when reading disorders can best be remediated. The pediatric ophthalmologist should educate parents about reading and dyslexia and provide prompt referral to professionals who have expertise in evaluating and treating learning disabilities.

Learning disabilities, dyslexia, and vision.

Learning disabilities constitute a diverse group of disorders in which children who generally possess at least average intelligence have problems processing information or generating output. Their etiologies are multifactorial and reflect genetic influences and dysfunction of brain systems. Reading disability, or dyslexia, is the most common learning disability. It is a receptive language-based learning disability that is characterized by difficulties with decoding, fluent word recognition, rapid automatic naming, and/or reading-comprehension skills. These difficulties typically result from a deficit in the phonologic component of language that makes it difficult to use the alphabetic code to decode the written word. Early recognition and referral to qualified professionals for evidence-based evaluations and treatments are necessary to achieve the best possible outcome. Because dyslexia is a language-based disorder, treatment should be directed at this etiology. Remedial programs should include specific instruction in decoding, fluency training, vocabulary, and comprehension. Most programs include daily intensive individualized instruction that explicitly teaches phonemic awareness and the application of phonics. Vision problems can interfere with the process of reading, but children with dyslexia or related learning disabilities have the same visual function and ocular health as children without such conditions. Currently, there is inadequate scientific evidence to support the view that subtle eye or visual problems cause or increase the severity of learning disabilities. Because they are difficult for the public to understand and for educators to treat, learning disabilities have spawned a wide variety of scientifically unsupported vision-based diagnostic and treatment procedures. Scientific evidence does not support the claims that visual training, muscle exercises, ocular pursuit-and-tracking exercises, behavioral/perceptual vision therapy, "training" glasses, prisms, and colored lenses and filters are effective direct or indirect treatments for learning disabilities. There is no valid evidence that children who participate in vision therapy are more responsive to educational instruction than children who do not participate.

A modification of Klein's Line to improve sensitivity of the anterior-posterior radiograph in slipped capital femoral epiphysis.

BACKGROUND: Radiographs can diagnose slipped capital femoral epiphysis (SCFE) on the anterior-posterior (AP) pelvis view and the frog-leg lateral view of the hips. On the AP radiograph, the lack of intersection between a line drawn parallel to the superior edge of the femoral neck (Klein's Line) and the epiphysis confirms a slip. Despite broad knowledge of the Klein's Line principle, application is difficult and inaccurate, especially in mild cases. On the frog-leg lateral radiograph, Southwick head/shaft angle and Wilson percent epiphyseal displacement commonly quantify the slip. Here, we set out to evaluate the intraobserver and interobserver reliability and the efficacy of these methods. METHODS: Five separate observers on 2 separate occasions evaluated 30 AP and 30 frog-leg lateral radiographs of patients with unilateral SCFE for head/shaft angle, percent epiphyseal displacement, and width of epiphysis lateral to Klein's Line. RESULTS: We calculated the minimum difference required for 2 measurements to be considered different with 95% confidence ("minimum agreement difference"). For head/shaft angle, the intraobserver minimum agreement difference was +/-7.27 degrees and the interobserver +/-8.80 degrees; for percent epiphyseal displacement, the intraobserver was +/-7.18% and the interobserver was +/-7.27%; and for width of epiphysis lateral to Klein's Line, the intraobserver was +/-1.98 mm and the interobserver +/-2.16 mm. For each of these measures, the slipped hips significantly differed from the control hips (P<0.001 in all cases). Our analysis of the classical definition of Klein's Line--the lack of intersection between Klein's Line and the epiphysis as a sign of a slip--identified only 40.3% of slips. By modifying Klein's Line such that we measure the width of epiphysis lateral to Klein's Line, we improved sensitivity to 79% if a difference of 2 mm between hips indicated a slip. CONCLUSIONS: On the basis of our findings, head/shaft angle and percent epiphyseal displacement provide reliable and efficacious means of radiographic SCFE diagnosis. The classic definition of Klein's line fails to identify 60% of slips. We propose a modification of Klein's Line to improve sensitivity.