Case Of Familial Exudative Vitreoretinopathy Research Articles

Familial Exudative Vitreoretinopathy (FEVR) with Nasal Retinal Involvement: A Rare Presentation.

To present a case of FEVR with nasal retinal involvement and aim to describe the clinical presentation, diagnostic findings, management strategies, and genetic testing. An evaluation of a 31-year-old female patient with FEVR presenting with predominate nasal retinal involvement. Diagnostic tests-including fundus examination, OCT, fluorescein angiography, and genetic testing-were performed. The patient's management involved intravitreal injection of 1.25 mg/0.05 mL of bevacizumab in the left eye and sectoral panretinal photocoagulation in both eyes. Results: The patient exhibited discrete neovascularization and tortuosity predominantly localized to the nasal retinal blood vessels. OCT imaging showed macular schisis and vitreomacular traction without retinal detachment. Genetic testing identified a likely pathogenic variant associated with autosomal dominant and recessive exudative vitreoretinopathy. Treatment with bevacizumab and panretinal photocoagulation resulted in regression of neovascularization and improvement in macular schisis. Conclusion: This case report highlights an atypical presentation of FEVR with nasal retinal involvement. Early recognition and genetic testing aids in diagnosis and management.

Refractive Status and Biometric Characteristics of Children With Familial Exudative Vitreoretinopathy.

To compare biometric characteristics between patients with early-stage familial exudative vitreoretinopathy (FEVR) and healthy controls. This case-control study included 50 FEVR eyes in stage 1-2 and 50 control eyes matched by age, gender and spherical equivalent (SE). Biometric parameters including axial length (AL), white-to-white diameter (WTW), central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), pupil diameter, vitreous chamber depth, anterior and posterior corneal surface curvature radius (ACR and PCR), anterior lens surface curvature radius (ALR) and posterior lens surface curvature radius were measured using IOLMaster 700 and compared between cases and controls using paired t-test. Correlations between SE and biometric measures were assessed using Pearson correlation coefficient (r) in cases and controls. Both FEVR cases and matched controls had a mean age of 7.6 years, 48% female and mean SE of -5.3D (80% myopia). Compared to controls, FEVR eyes had smaller AL (P = 0.009), WTW (P = 0.001), ACD (P < 0.001), and ALR (P = 0.03), but larger CCT (P = 0.02) and LT (P = 0.01). In FEVR eyes, SE was negatively correlated with AL (r = -0.79, P < 0.001), positively correlated with ACR (r = 0.29, P = 0.04) and PCR (r = 0.33, P = 0.02), whereas in controls, SE was negatively correlated with AL (r = -0.82, P < 0.001) and LT (r = -0.34, P = 0.02), positively correlated with ALR (r = 0.29, P = 0.04). Patients at early stage of FEVR exhibited a unique eye morphology resembling ocular development arrest, which may help to develop screening and early detection tools for FEVR. In FEVR patients, myopia is very prevalent and significantly associated with corneal curvature increase.

Long-term clinical prognosis of 335 infant single-gene positive FEVR cases

PurposeTo describe and analyze the clinical prognosis of infants diagnosed of familial exudative vitreoretinopathy (FEVR) with single gene mutation in long-term follow-up.MethodsA retrospective case study was conducted on 355 FEVR infants with single positive gene.ResultOf the 335 single-gene positive infant FEVR cases (under 3 years old), 20% (n = 67) was diagnosed of strabismus at first visit. Staging of various genotypes was different (P < 0.001). Patients with NDP mutations presented the most severe clinical phenotypes and patients with ZNF408 mutations presented the mildest clinical phenotypes. Most infants underwent surgery under 1 year old (5th stage 75 of 108 [69.44%]). The axial length of different genotypes showed no significant difference (P = 0.2891). The 1st to 3rd stage cases were given intravitreal injection and/or retina photocoagulation with the last follow-up vision above 20/67. The 4th to 5th stage cases received the transcorneal vitrectomy with lensectomy or lens sparing vitrectomy (LSV), whose lens maintained transparent after LSV (11/14[78.58%]). After 2 to 10 years of follow-up, 37.96% (41/108) of post-surgery cases showed retinal funnel-like unfold and posterior pole unfold, 69.57% (16/ 23) of which received second surgery for closure of pupil with good prognosis. At the last follow-up, 20% (60/300) were with vision above 20/200.ConclusionLRP5 gene mutation was the most common mutation in FEVR patients. The severity of the clinical phenotype varied with different gene mutations. The main surgical methods for cases at Stage 4–5 were transcorneal vitrectomy with lensectomy or LSV. The earlier FEVR occurred, the worse prognosis would be. Active surgical intervention and lens sparing were necessary for cases at Stage 4–5.

Familial exudative vitreoretinopathy: an overview

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder, characterised by the abnormal development of retinal blood vessels. FEVR is marked by an avascular peripheral retina, which may give rise to a range of sight-threatening complications depending on the severity of the disease. FEVR and retinopathy of prematurity almost share the same ocular manifestations, but most FEVR cases are full-term. To date, several pathogenic genes have been reported to be associated with FEVR whose inheritance pattern may be autosomal dominant, autosomal recessive or X-linked. It has been proposed that defects in the Norrin/Frizzled4 signalling pathway play a role in the pathogenesis of FEVR. Fluorescein Angiography stands out as a standard approach for an accurate diagnosis, especially in early stages and asymptomatic cases. Regarding current treatments, laser coagulation of retinal avascular zones is a key for managing neovascularization and exudation, and surgical intervention is required in severe cases with progressive retinal detachment.

Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene

Familial exudative vitreoretinopathy (FEVR)is a rare genetically heterogeneous disease with multiple types of inheritance (autosomal dominant, autosomal recessive, X-linked) and widely varying clinical features. Up to 40 % of cases of FEVR are associated with mutations of the FZD4 gene.Purpose: to investigate the clinical manifestations of FEVR in children with nucleotide sequence alterations in the FZD4 gene. Material and methods. The Helmholtz National Medical ResearchCenter of Eye Diseases and the ResearchCentre for MedicalGenetics conducted a joint in-depth ophthalmological examination of 18 patients aged from 3 weeks to 17 years with a diagnosis of FEVR, which included a detailed ophthalmoscopy under drug mydriasis, ultrasound and electrophysiological examination, photographic recording of fundus changes using RetCam and Fundus Foto. Molecular genetic examination was carried out by direct sequencing according to Sanger. Results. Nucleotide sequence alterations in the FZD4 gene were detected in 3 patients(16.7 %)from two unrelated families. In one family, a 12-year-old girl wasfound to display the firstsymptoms of ophthalmic pathology (reduced vision, strabismus) at the age of 3.5 years. In another family, the clinical manifestations of FZD4 gene mutations were observed in two children during the first year of life (at the age of 5 and 11 months).Conclusions. The clinical picture of 3 patients with detected changes in the nucleotide sequence of the FZD4 gene is characterized by early manifestation and bilateral asymmetric ophthalmoscopic damage. The results of the study indicate the need for a timely diagnosis of FEVR in young children, recommend an interdisciplinary approach to the study of the disease, which should contribute to a better understanding of pathogenesis, and the development of an effective diagnostic, treatment and rehabilitation algorithm.

Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.

Purpose We have observed that some preterm infants whose fundus appears very similar to eyes with familial exudative vitreoretinopathy (FEVR) present with atypical retinopathy of prematurity (ROP). To establish a definitive diagnosis and explore the possible genetic mechanism of atypical ROP, we performed gene sequencing of these cases using next-generation sequencing technology. Methods A retrospective review of infants who presented with atypical ROP from October 2013 to February 2017 was performed. The data included gender, gestational age at birth, birth weight, family history, systemic disorders, and age-appropriate ophthalmic examinations. Fundus fluorescein angiography (FFA) of the parents was also performed. Peripheral blood was collected from the patients and their parents to sequence genes. Gene mutations were analysed. Results Genetic testing revealed that 9 infants had FEVR-related disease-causing gene mutations. Nine gene mutations were detected; 5 had already been reported, and the other 4 were novel. In the 18 eyes of these 9 patients, 9 eyes exhibited severe ROP. 5 cases had a positive family history. Conclusions Gene mutations of low-density-lipoprotein receptor-related protein 5(LRP5), frizzled-4(FZD4), Norrie disease protein (NDP), and tetraspanin-12(TSPAN12) may play a role in the pathogenesis of ROP and cause atypical ROP or preterm FEVR. The fundus lesions of ROP patients with disease-causing gene mutations were more serious. ROP cases should be carefully differentiated from preterm FEVR cases.

MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY

To report a case of familial exudative vitreoretinopathy in which genetic testing was used to confirm the diagnosis with a new mutation identified in FZD4 gene. A 28-year-old girl was addressed to our clinic for surgical management of a macular hole possibly associated with Coats disease. Multimodal imaging was performed including fundus photography, fundus autofluorescence, optical coherence tomography, fluorescein, and indocyanine green angiography. On examination, visual acuity was light perception secondary to previous retinal detachment and 20/32, respectively, in her right and left eye. Clinical and imaging evaluations showed findings suggestive for familial exudative vitreoretinopathy. Spectral domain optical coherence tomography study of the macula showed a macular pucker with lamellar macular hole and a conservative approach was preferred. After 18 months of observation, the patient underwent surgery secondary to the onset of a full thickness macular hole. After 24 months, the patient's vision was 20/32. Genetic testing was used to confirm the diagnosis demonstrating 2 new mutations in FZD4 gene. Our case emphasizes the importance of a prompt recognition of familial exudative vitreoretinopathy disease also using gene testing and a close follow-up to prevent and manage possible complications.

Analysis of genotype and phenotype of hereditary retinal diseases which are easily misdiagnosed as amblyopia

Objective To analysis the genotype and phenotype of hereditary retinal diseases (HRD) which are easily misdiagnosed as amblyopia. Methods A case-control study was designed.The patients with HRD who were misdiagnosed as amblyopia in Ningxia Eye Hospital from January to December, 2017 were recruited in this study.The clinical medical history and ophthalmic examinations of patients and their family members were recorded, and family maps were drawed.Peripheral venous blood (5 ml) from each patient and their family members was collected, and genomic DNA was extract.The target sequence capture sequencing technology was used to detect the genetic testing in serum of the patient, and the pathogenic mutation site was determined by Sanger sequencing and co-segregation verification.Genetic testing results with related ophthalmic examination were considered together to analyze the relationship between genotype and phenotype.This study followed the Declaration of Helsinki.Written informed consent was obtained from each subject or the guardian prior to entering study cohort.This study protocol was approved by Ethic Committee of People's Hospital of Ningxia Hui Autonomous Region Hospital (No.2016018). Results Twenty-two patients with HRD were enrolled in the study, including 10 Stargardt disease (STGD), 8 cases of cone dystrophy (COD) or cone and rod dystrophy (CRD), and 5 cases of familial exudative vitreoretinopathy(FEVER). Nine patients were detected to have pathogenic mutations, and the positive rate was 40.9%, of which 4 patients with STGD carried mutation gene, including ABCA4 and PROM1 genes; mutations in RPGR, PROM1 and GUCY2D genes were detected in 3 patients with COD or CRD; TSPAN12 gene mutation were detected in 2 patients with FEVER.Eleven mutation sites were detected, 4 of which were newly discovered mutation sites.All of the patients in 9 HRD families developed symptoms during adolescence.At the early stage of the disease, there was severe damage to the eyesight, but the fundus was normal or only slightly abnormal.As the disease progressed, the fundus changes were characteristic, and there were clinical phenotypic overlap between some diseases.All family genotypes and clinical phenotypes were co-separated. Conclusions The main pathogenic gene of STGD is ABCA4 gene, and PROM1 gene can also cause partial STGD; COD and CRD have similar clinical manifestations, and the pathogenic genes also cross each other, and the genetic pattern is diverse; FEVER caused by mutation of TSPAN12 gene is autosomal dominant, and the mutation type has missense mutation and frameshift mutation.HRDs lack typical early clinical signs, and genetic diagnosis can provide pre-symptomatic diagnosis. Key words: Hereditary retinal disease; Genotype; Phenotype

Diagnosis of complicated FEVR preoperatively and intra\u2212/post-operatively: characteristics and risk factors for diagnostic timing

BackgroundTo delineate the characteristics of complicated familial exudative vitreoretinopathy (FEVR) patients diagnosed before surgery or intra−/post-operatively and to analyze the risk factors for the diagnostic timing.MethodsForty-eight patients who underwent surgery and were diagnosed as FEVR in our department were retrospectively reviewed. Data were collected including the demographic and clinical characteristics of these patients. FEVR patients were divided into 2 groups according to the diagnostic timing: FEVR diagnosed pre-operatively (23 patients), FEVR diagnosed intra−/post-operatively (25 patients). Multivariable analysis was applied for analyzing the risk factors for diagnostic timing.ResultsThe clinical characteristics of the FEVR patients were of great variability, including retinal detachment (RD), disappear of anterior chamber, retrolental membrane, epiretinal membrane (ERM), vitreous hemorrhage (VH), myopic foveoschisis (MF), lamellar macular hole (LMH), high myopia (HM). And the referral diagnosis or pre-operative diagnosis were always non-specific. The majority of the referral or preoperative diagnosis were unilateral RD (52.1%), bilateral RD (8.3%), unilateral persistent fetal vasculature (PFV) (8.3%), bilateral PFV (4.2%). There are two risk factors for the complicated FEVR cases diagnosed as FEVR preoperatively: pre-operative ocular manifestations with RD only (OR, 0.104; p-value, 0.022), positive parent’s fluorescein angiography (FA) (OR, 0.105; p-value, 0.035).ConclusionsThe phenotypes of FEVR were greatly variable, they can mimic many non-specific vitreoretinal disorders. The most non-specific referral diagnosis/pre-operative diagnosis was unilateral RD, bilateral RD, unilateral PFV, bilateral PFV. A positive family history or a simple ocular presentation with RD only could contribute to diagnose FEVR preoperatively.

Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis

Abstract Objective To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4 . Case report The proband is a 13 year-old boy who consulted for low vision. Fundus examination revealed a peripheral avascular zone and macular dragging, consistent with FEVR. Molecular analysis demonstrated a mutation of FZD4 in DNA from both the patient and his asymptomatic mother. Discussion This familial case was identified with the molecular analysis of FZD4 and shows the importance to explore first degree relatives in a sporadic FEVR case.

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7–19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP. Clinical and genetic evaluations were extended to relatives of probands positive to genetic testing. Six out of eight probands (75%) showed a genetic variation probably related to the phenotype. We identified four novel genetic variants, one variant already described in association with Norrie disease and one previously described linked to autosomal dominant FEVR. Pedigree analysis of patients led to the classification of four autosomal dominant cases of FEVR (caused by FZD4 and TSPAN12 variants) and two X-linked FEVR probands (NDP variants). None of the patients showed variants in the LRP5 gene. This study represents the largest cohort study in Italian FEVR patients. Our findings are in agreement with the previous literature confirming that FEVR is a clinically and genetically heterogeneous retinal disorder, even when it manifests in the same family.

Vitreorretinopatía exudativa familiar, reporte de un caso asintomático con herencia autosómica dominante, detectado mediante análisis molecular de FZD4

ObjectiveTo report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4. Case reportThe proband is a 13 year-old boy who consulted for low vision. Fundus examination revealed a peripheral avascular zone and macular dragging, consistent with FEVR. Molecular analysis demonstrated a mutation of FZD4 in DNA from both the patient and his asymptomatic mother. DiscussionThis familial case was identified with the molecular analysis of FZD4 and shows the importance to explore first degree relatives in a sporadic FEVR case.

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

Background/aimsTo identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes.MethodsMutation analysis in a cohort of patients in a single institute was conducted. Bioinformatics...

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by the failure of peripheral retinal vascularization. The genes FZD4, LRP5, and TSPAN12 are known to be associated with the autosomal inheritance form of FEVR. In this study, we performed mutation screening for FZD4, LRP5, and TSPAN12 in patients with clinical diagnosis of FEVR. In patients with no mutation detected, sequencing analyses for ZNF408, a novel gene potentially related to FEVR, and two other genes related to retinal development, LGR4 and ATOH7, were performed. Mutational studies were done in 51 unrelated patients with diagnosis of FEVR during 2008 to 2012 at the Seoul National University Hospital. These patients were screened previously for NDP gene and confirmed to be negative for mutations. Diagnosis of FEVR was established by ophthalmic examinations. Data collected from medical records included sex, age at diagnosis, clinical presentation, and angiographic findings. In this study, we identified 3 known mutations, 10 novel variants with high possibility of pathogenicity, and a whole gene deletion in a total of 18 unrelated patients of 51, resulting in 35.3% of patients being genetically confirmed as having FEVR. Among the patients with pathogenic mutations detected, FZD4 mutations accounted for the largest proportion of autosomal inheritance FEVR cases (13/18 patients, 72.2%), followed by LRP5 (4/18 patients, 22.2%) and TSPAN12 (1/18 patients, 5.6%). No pathogenic mutations were identified in ZNF408, LGR4, and ATOH7. A significant difference in FEVR stage and visual acuity was observed according to the gene involved, showing that patients with FZD4 mutations had milder phenotype. Mutations of FZD4 accounted for the largest proportion, which could be directly applied to the testing strategy to start with screening for FZD4 mutations. Panel sequencing consisting of related genes would be an alternative choice for the diagnosis of FEVR. Also, genotype-phenotype correlation suggested in this study could be helpful in genetic counseling of the probands and their family members as well.

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR). Ophthalmologists should be aware of the range of presentations for mutations in KIF11 because the phenotypic distinction between FEVR and MLCRD/CDMMR portends management implications in patients with these conditions. To identify gene mutations in patients who present with a FEVR phenotype and explore the spectrum of ocular and systemic abnormalities caused by KIF11 mutations in a cohort of patients with FEVR or microcephaly in conjunction with chorioretinopathy or FEVR. Clinical data and DNA were collected from each participant between 1998 and 2013 from the clinical practices of ophthalmologists and clinical geneticists internationally. Twenty-eight FEVR probands with diagnoses made by the referring physician and without a known FEVR gene mutation, and 3 with microcephaly and chorioretinopathy, were included. At least 1 patient in each pedigree manifested 1 or more of the following: macular dragging, partial retinal detachment, falciform folds, or total retinal detachment. Whole-exome sequencing was conducted on affected members in multiplex pedigrees, and Sanger sequencing of the 22 exons of the KIF11 gene was performed on singletons. Clinical data and history were collected and reviewed. Identification of mutations in KIF11. Four novel heterozygous KIF11 mutations and 1 previously published mutation were identified in probands with FEVR: p.A218Gfs*15, p.E470X, p.R221G, c.790-1G>T, and the previously described heterozygous p.R47X. Documentation of peripheral avascular areas on intravenous fluorescein angiography was possible in 2 probands with fibrovascular proliferation demonstrating phenotypic overlap with FEVR. Mutations in KIF11 cause a broader spectrum of ocular disease than previously reported, including retinal detachment. The KIF11 gene likely plays a role in retinal vascular development and mutations in this gene can lead to clinical overlap with FEVR. Cases of FEVR should be carefully inspected for the presence of microcephaly as a marker for KIF11-related disease to enhance the accuracy of the prognosis and genetic counseling.

The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease

AimThe aim of this study is to assess the role of Frizzled-4 (FZD4) in familial exudative vitreoretinopathy (FEVR) and Coats disease.MethodsTissue samples were collected for DNA extraction and automated DNA...

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases. The proteins encoded by these FEVR genes form part of a signaling complex that activates the Norrin-beta-catenin signaling pathway. Recently, through a large-scale reverse genetic screen in mice, Junge and colleagues identified an additional member of this signaling complex, Tspan12. Here, we report that mutations in TSPAN12 also cause autosomal-dominant FEVR. We describe seven mutations identified in a cohort of 70 FEVR patients in whom we had already excluded the known FEVR genes. This study provides further evidence for the importance of the Norrin-beta-catenin signaling pathway in the development of the retinal vasculature and also indicates that more FEVR genes remain to be identified.

Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab

To report a case of familial exudative vitreoretinopathy (FEVR) rapidly resolved by intravitreal injection of bevacizumab. A 36-year-old woman complained about floaters and visual field defect. Funduscopic examinations revealed retinal vessel anastomosis located between the equator and ora serrata in both eyes. The right eye was accompanied with slight vitreous hemorrhage. Since the patient declined retinal cryopexy for cosmetic reasons, intravitreal bevacizumab injections (1.25 mg/0.05 ml) were performed in both eyes. Treatment resulted in the rapid regression and the accelerated fibrosis of neovascular tissues. At 4-month follow-up in the right eye and 1-month follow-up in the left, no signs of systemic or ocular complications were detected. Intravitreal injection of bevacizumab may be considered as an alternative method in treating FEVR.

Novel Mutations in Norrie Disease Gene in Japanese Patients with Norrie Disease and Familial Exudative Vitreoretinopathy

To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND, and from some of their family members. The clinical symptoms and signs in the patients with mutations were assessed. X-inactivation in the female carriers was examined in three FEVR families by using leukocyte DNA. Four novel mutations-I18K, K54N, R115L, and IVS2-1G-->A-and one reported mutation, R97P, in the NDP gene were identified in six families. The severity of vitreoretinopathy varied among these patients. Three probands with either K54N or R115L had typical features of FEVR, whereas the proband with R97P had those of ND. Families with IVS2-1G-->A exhibited either ND or FEVR characteristics. A proband with I18K presented with significant phenotypic heterogeneity between the two eyes. In addition, affected female carriers in a family harboring the K54N mutation presented with different degrees of vascular abnormalities in the periphery of the retina. X-inactivation profiles indicated that the skewing was not significantly different between affected and unaffected women. These observations indicate that mutations of the NDP gene can cause ND and 6% of FEVR cases in the Japanese population. The X-inactivation assay with leukocytes may not be predictive of the presence of a mutation in affected female carriers.

Retinal capillary angioma in familial exudative vitreoretinopathy treated with photodynamic therapy

Purpose To report a case of familial exudative vitreoretinopathy with a retinal capillary angioma and persistent macular exudation treated with photodynamic therapy. Design Interventional case report. Methods A 39-year-old woman with familial exudative vitreoretinopathy presented with an intraretinal capillary angioma temporally with persistent macular exudation despite previous vitrectomy and thermal laser. Photodynamic therapy to the retinal angioma was performed. Results Three months after photodynamic therapy, vision was stable at 20/200 with a reduction in lesion size on B-scan ultrasonography and no leakage on fluorescein angiography. With 10 months of follow-up there was no recurrence of leakage. Conclusion Retinal capillary angioma may be present in association with familial exudative vitreoretinopathy, and photodynamic therapy may provide a good alternative treatment to decrease exudation.