Retinopathy of Prematurity Screening of Preterm Infants With Icteric Vitreous.

Purpose: To present 2 cases of premature newborns with hyperbilirubinemia and retinopathy of prematurity (ROP) who could not be examined properly to assess for disease progression because of vitreous opacification in the setting of an icteric vitreous and frail health status. Methods: The cases and their findings were analyzed. Results: Given the sickness of the neonates and examination difficulty, intravitreal bevacizumab was administered in both eyes to prevent disease progression. During subsequent examinations, the patients remained stable until discharge from the neonatal intensive care unit and were followed in the outpatient clinic without complication. Conclusions: The ROP and vitreous opacification in our cases were thought to be caused by hyperbilirubinemia. Because of vitreous opacification, these patients could not be properly examined for ROP. Treatment with an intravitreal antivascular endothelial growth factor injection might be considered to delay disease development until the newborn is healthier and able to be examined.

Avascular Peripheral Retina in Infants.

Avascular peripheral retina in an infant is a common characteristic of numerous pediatric retinal vascular disorders and often presents a diagnostic challenge to the clinician. In this review, key features of each disease in the differential diagnosis, from retinopathy of prematurity, familial exudative vitreoretinopathy, Coats disease, incontinentia pigmenti, Norrie disease, and persistent fetal vasculature, to other rare hematologic conditions and telomere disorders, will be discussed by expert ophthalmologists in the field.

Widefield Fluorescein Angiography Findings in Pediatric Patients with X-Linked Retinoschisis.

PURPOSE: To evaluate the retinal vasculature in pediatric patients with X-linked retinoschisis (XLRS). DESIGN: Retrospective consecutive case series. SUBJECTS: Pediatric patients with a diagnosis of XLRS who had undergone widefield fluorescein angiography (FA). METHODS: The electronic medical records of pediatric patients with XLRS at a tertiary referral eye center were reviewed from January 2015 to December 2021. Fluorescein angiography images were reviewed for anomalies of the retinal vasculature. MAIN OUTCOMES MEASURES: Vascular anomalies on FA were recorded, including capillary dropout/ischemia, terminal supernumerary vessels, vascular leakage, abnormal vascular loops, straightening of vessels, aberrant circumferential vessels, and neovascularization. RESULTS: In total, 29 eyes of 15 patients were included in the study (1 patient had a phthisical eye). On FA, the most common findings were capillary dropout/ischemia (21 of 29 eyes, 72.4%), terminal supernumerary vessels (21 eyes, 72.4%), abnormal vascular loops (20 eyes, 69%), and vascular leakage (17 eyes, 58.6%). Of the 17 eyes with leakage, the most posterior zone of involvement was zone 1 in 11 eyes (64.7%) and zone 2 in 6 eyes (35.3%). All eyes demonstrated ≥ 1 vascular anomaly on FA. Among the 29 eyes, 23 (79.3%) demonstrated peripheral bullous schisis or retinal detachment (RD) with a mean of 5.6 clock hours of involvement. The presence of either RD or bullous retinal schisis was associated with the incidence of capillary dropout (91.3% in schisis/RD eyes vs. 0% in nonschisis/RD eyes, P < 0.001). Among those with RD or bullous schisis, a higher degree of involvement correlated with more severe capillary dropout (Pearson 0.49, P = 0.025). CONCLUSION: The present study demonstrates consistent vascular changes in pediatric patients with XLRS using widefield FA. Although the presence of capillary ischemia was associated with the severity of bullous schisis or RD, other vascular anomalies were observed in patients both with and without peripheral schisis. Although further research is needed to understand the etiology of these vascular anomalies, FA should be considered in the evaluation of these patients. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP).

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disease characterized by abnormal retinal angiogenesis that leads to incomplete vascularization of the peripheral retina and ischemia. The disease demonstrates complex genetics and can be inherited in an autosomal recessive, autosomal dominant, or X-linked recessive fashion. All presently identified pathogenic genetic variants account for about 50% of all FEVR cases worldwide. Genetic testing can confirm the diagnosis. MATERIALS AND METHODS: Case report. CASE: A 7-year-old female who was born prematurely at 33 weeks gestation and was thought to have progression of bilateral retinopathy of prematurity (ROP) was referred to a pediatric-retina specialist for management. Upon initial examination under anesthesia with multimodal imaging, the diagnosis of FEVR was suspected. Genetic testing identified a FZD4 variant involving a novel complex interchromosomal rearrangement involving chromosomes 2 and 11 associated with microarray-defined deletion of 11q14. The patient was conceived via IVF and has a fraternal twin without FEVR. This is the first report of familial exudative vitreoretinopathy associated with this combination of genetic findings. CONCLUSION: Autosomal dominant FEVR involves abnormalities in several genes, including FZD4 at the chromosome 11q. We recommend that patients with microarray-defined deletions of 11q have careful review of the allelic deletions in Chromosome 11 to determine if FZD4 is included because a loss of function variant of a single copy of FZD4 is sufficient to cause the FEVR phenotype. It is essential to differentiate FEVR from other pediatric retinal diseases in children, including ROP, persistent fetal vasculature, and Coats disease.

Smith-Lemli-Optiz syndrome: importance of ophthalmology referral and follow-up.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the 7-dehydrocholesterol reductase (DHCR7) gene, located on chromosomal region 11q13. This results in reduced cholesterol and increased 7-dehydrocholesterol (7DHC) levels. Accumulation of 7DHC in patients with SLOS can affect multiple organs and display a broad phenotypic expression. Ophthalmic abnormalities related to SLOS are variable but the most common is blepharoptosis. Over 50% of these patients present with self-injurious behavior, such as head banging, which can result in ocular complications and blindness. We report the first case of peripheral avascularity of the retina in a patient with SLOS. Physicians should be aware of the potential ocular complications associated with SLOS and confounding factors, such as prematurity, given that referral is usually delayed due to the lack of awareness of these potentially blinding associations. This case highlights the importance of early referral and continuous ophthalmologic follow-up in preventing further deterioration of visual development and complications that can lead to blindness.

Gorlin Syndrome Associated With a Solitary Circumscribed Retinal Astrocytic Proliferation in a Pediatric Patient.

Gorlin syndrome is a rare autosomal dominant disorder with near complete penetrance. The underlying genetic mechanism is a mutation in a tumor suppressor gene. Thus far, mutations in patched homolog 1 and 2 genes (PTCH1 and PTCH2) and the suppressor of fused gene (SUFU) have been identified. The syndrome is characterized by neoplasms arising early in childhood as well as developmental abnormalities, including ophthalmic anomalies. We present the first case associating Gorlin syndrome with a rare retinal lesion known as solitary circumscribed retinal astrocytic proliferation (SCRAP). SCRAP is a benign, stable retinal tumor. For this reason, it is essential to differentiate it from similar retinal lesions that are associated with poor prognosis. [Ophthalmic Surg Lasers Imaging Retina 2022;53:514-516.].

A Young Boy With Changes in the Retinal Pigment Epithelium.

A 9-year-old boy presented with changes in peripheral retinal pigment epithelium. Ocular history included high hyperopia and amblyopia, and abnormal foveal contour was discovered when he was aged 3 years. What would you do next?

Coats plus in prematurity.

BACKGROUND: Coats plus syndrome or cerebroretinal microangiopathy with calcifications and cysts (CMCC) is an exceedingly rare autosomal recessive disorder that predominantly affects the microvasculature in the retina, brain, bones, and gastrointestinal system. Unlike Coats disease, CMCC is bilateral and affects multiple organ systems. MATERIALS AND METHODS: Case report. RESULTS: We report the case of two brothers with Coats Plus syndrome who presented with variable phenotypic expression. One sibling (Patient 1) was thought to have atypical retinopathy of prematurity and was only diagnosed with Coats plus after his older brother (Patient 2) presented with a seizure and a left upper extremity tremor at 4 years of age. The CTC1 mutation was confirmed in both patients. Aggressive treatment with laser photocoagulation and intravitreal bevacizumab dramatically improved the retinal vascular and exudative changes. CONCLUSION: Coats Plus syndrome can have a variable phenotypic presentation, including retinal vascular findings. This rare genetic disease should be in the differential diagnosis in patients who present with atypical retinal pathology, including Retinopathy of Prematurity, Familial Exudative Vitreoretinopathy, or Coats disease associated with non-specific multiorgan abnormalities.