UNASSIGNED: To report a rare clinical finding of preretinal granules associated with atypical familial exudative vitreoretinopathy (FEVR) and perform a review of the literature.
UNASSIGNED: An asymptomatic 18-year-old male was referred for unilateral peripheral avascular retina evaluation in association with presumed FEVR. He was first noted to have white preretinal granules on fundus examination at five years of age. The lesions remained unchanged over the subsequent years. Genetic testing did not reveal a pathogenic or likely pathogenic variant in a known FEVR gene. A review of the literature revealed five other cases of FEVR with similar findings.
UNASSIGNED: Literature review suggests preretinal granules may present rarely in FEVR. Negative genetic screening of known FEVR genes in our patient with atypical FEVR suggests either a molecularly distinct etiology supporting the rarity of this association with FEVR or, alternatively, the presence of granules in developmental retinal vascular anomalies that are not specific to FEVR. Future study and genetic testing is necessary to better understand the cause of these preretinal granules and the clinical manifestations of FEVR.

In this case report, we aim to illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that closely resembles incontinentia pigmenti (IP) and the role of genetic testing that is of no cost to the patient in providing the correct diagnosis. We present a case of an 11-year-old female-to-male transgender patient with a history of hypodontia and skin hypopigmentation who was incidentally found to have a retinal lesion on ultra-widefield fundus imaging during routine screening. Ultra-widefield fluorescein angiography confirmed bilateral peripheral ischemic retinopathy that was successfully treated with laser. The patient was presumed to have IP; however, genetic testing was negative. Due to cost, further genetic testing was declined by the family, and the patient had no further ocular complaints. At age 16, genetic testing became available to the patient, and the patient was found to have FEVR with LRP5 mutation. The patient began screening for comorbidities associated with LRP5 mutation. This case highlights how the ophthalmologic findings of FEVR can present identically to those of IP, and genetic testing is an invaluable tool in distinguishing between these two pathologies. Correct diagnosis of FEVR is vital in assessing other comorbidities of the disease, including osteoporosis. Furthermore, increased use of ultra-widefield fundus imaging in routine eye screening may be of great benefit for community screening of retinal disease, and ultra-widefield fluorescein angiography is of significant use in the diagnosis of FEVR.

To report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-associated Familial Exudative Vitreoretinopathy (FEVR).
A 6-month-old Caucasian infant presented with poor visual response, high hypermetropia, and infantile-nystagmus with a provisional diagnosis of Leber Congenital Amaurosis based on clinical findings. Genetic counseling and testing were performed with a 285 gene retinal dystrophy panel (Blueprint Genetics). Clinical characteristics, presentation, ancillary testing results, and management are described.
Two previously reported heterozygous pathogenic variants in ICQB1 were identified (c.1518_1519del (p.His506Glnfs*13) and c.1381C>T, p.Arg461*) segregating in trans. In addition, a variation of uncertain significance (VUS) was found in NDP (c.280C>T; p.His94Tyr). Fluorescein angiography was performed demonstrating peripheral avascularity and retinal telangiectasia without frank neovascularization. Peripheral ablative laser was applied to the avascular zone.
The NDP VUS likely represents a pathogenic variant given the FEVR phenotype in addition to retinal degeneration, creating a rare dual phenotype. The combination of low oxygen demand from the IQCB1-associated retinal degeneration and NDP variant may have led to a more attenuated FEVR presentation with uncertain prognosis. A molecular diagnosis informed ocular and renal surveillance, as well as the recurrence risk for future offspring.

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. A 49-year-old male patient was referred to our clinic for retinal vascular occlusion. His history, clinical findings, and fundus fluorescein angiography findings were evaluated. Family members were called and eye examinations were performed. Our patient was not born preterm and he reported decreased visual acuity after a traffic accident during childhood. He had laser treatment when he was 12 years old and again 1 month before our examination. He also had laser-assisted in situ keratomileusis surgery for both eyes in 2002. On examination, his visual acuity was 0.4 in the right eye and 0.3 in the left eye. He had cortical cataract in both eyes. Macula OCT revealed macular contour irregularity due to epiretinal membrane in his right eye and minimal perifoveal thinning in his left eye. On fundus photography, straightening of the retinal vessels, macular dragging, retinal folds on temporal retina, preretinal fibrosis, and laser spots were seen. FFA revealed avascular retinal areas with incomplete laser spots in the temporal, inferior, and superior parts of retina. He also had neovascularization with leakage in the temporal retina of his right eye. The patient\'s brother, who was also born at full term, also had excessive branching of the vascular structures in the temporal peripheral retina, non-perfused cord vessels and avascular areas. In light of all these findings, we diagnosed our patient with Stage 2A FEVR and his brother with Stage 1 FEVR. In summary, FEVR is a clinically diagnosed disease. Because FEVR is inherited and potentially sight-threatening, family examination is helpful and important so that affected family members can be diagnosed and followed up.