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PURPOSE: To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy. METHODS: Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings. RESULTS: 10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%). CONCLUSION: LEPREL1 -related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.
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Oftalmopatias Hereditárias , Miopia , Descolamento Retiniano , Perfurações Retinianas , Feminino , Humanos , Descolamento Retiniano/cirurgia , Perfurações Retinianas/cirurgia , Estudos Retrospectivos , Miopia/cirurgia , Fenótipo , VitrectomiaRESUMO
PURPOSE: To describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced S-cone syndrome (ESCS). METHODS: This study reported the serial ophthalmologic examinations and macular spectral-domain optical coherence tomography (SD-OCT) imaging over a period of 6 years in a 29-year-old man with ESCS confirmed by electroretinography (ERG) and NR2E3 molecular genetic analysis. RESULTS: At presentation, patient had night blindness and visual acuity (VA) of 20/300 in the right eye (OD) and 20/100 in the left eye (OS). Examination showed bilateral retinal midperipheral pigmentary deposits and a macular schisis in OD. Electroretinography and NR2E3 genetic analysis confirmed ESCS. A year later, a lamellar MH (LMH) appeared at the fovea in OD. SD-OCT confirmed it as inner retinal layer LMH with outer retinal preservation and displayed, on the temporal side of the LMH, prominent splitting between the inner and outer retinal layers. At 2 years, a focal defect in the ellipsoid zone appeared on SD-OCT, followed by split in the outer retinal layer creating a progressively expanding outer LMH. The latter had rolled edges which then fused with the inner LMH margins creating a single full-thickness FTMH. Over the next 4 years, enlargement of the FTMH with increased adjacent retinal splitting continued. No visible vitreous abnormalities or vitreoretinal traction forces were identified at any stage during follow-up. VA OD remained unchanged. CONCLUSION: This case illustrates that the clinical evolution of FTMH in ESCS may be progressive and likely involves degeneration and intraretinal, rather than vitreoretinal, traction. This should be kept in mind when considering surgical intervention in these cases.
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Oftalmopatias Hereditárias , Perfurações Retinianas , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Fóvea Central , Humanos , Masculino , Degeneração Retiniana , Perfurações Retinianas/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica , Transtornos da VisãoRESUMO
BACKGROUND: Proliferative retinopathy is an uncommon feature of Vogt Koyanagi Harada (VKH) disease which might indicate poor uveitis control in these patients. We aim to describe the clinical features and outcome of management of proliferative retinopathy in 2 patients with VKH. CASE PRESENTATION: 19 and 33 years old females with VKH presented with unilateral proliferative retinopathy. Both patients had neovascularization of the optic disc (NVDs) and one patient had neovascularizations elsewhere (NVEs) and preretinal hemorrhage. Both patients had exudative retinal detachments (ERD). Systemic steroids and immunomodulatory agents were successfully used to control inflammation and achieve regression. One patient developed fibrous tissue formation at the disc area as well as an epiretinal membrane formation, for which she had pars plana vitrectomy with membrane peeling. Both patients had controlled inflammation with stable vision. CONCLUSIONS: Proliferative retinopathy can present variably in VKH patients and indicates persistent inflammation which is incompletely controlled. Proper uveitis control is sufficient to achieve regression of retinal neovascularization.
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Disco Óptico , Descolamento Retiniano , Uveíte , Síndrome Uveomeningoencefálica , Vitreorretinopatia Proliferativa , Adulto , Feminino , Humanos , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Síndrome Uveomeningoencefálica/complicações , Síndrome Uveomeningoencefálica/diagnóstico , Síndrome Uveomeningoencefálica/tratamento farmacológico , Adulto JovemRESUMO
Corticosteroids are crucial for treating inflammatory ocular conditions. The development of dexamethasone revolutionized targeted ocular therapy. Ozurdex, a dexamethasone implant, effectively treats various eye conditions but carries risks such as implant migration. This is a case of anterior segment migration of intravitreal dexamethasone implant, Ozurdex, in a patient with scleral fixation intraocular lens implant in whom conservative management with supine positioning and pharmacologic pupil dilation can help retain the implant back in the vitreous. Patients at high risk of Ozurdex migration should avoid its use. Educate patients on the risk of implant migration and signs of migration to present immediately to an ophthalmology emergency department to avoid corneal damage. It is essential to identify high-risk patients before considering Ozurdex migration. In some cases, conservative management can be initiated while preparing for surgical removal.
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Sickle cell trait is considered a benign condition. Ophthalmic manifestations are infrequent but can result in significant visual deterioration. We present a case of a 33-year-old male, not known to have any medical illnesses, who presented to the ophthalmological emergency room complaining of a sudden onset of painless and profound left eye vision loss for 12 hours. The patient denied any medication use, past eye trauma, or surgery. On detailed ophthalmologic examination, the best-corrected visual acuity (BCVA) was 20/20 in the right eye and hand movement in the left eye. Dilated fundus examination of the left eye showed a central retinal artery occlusion (CRAO) with pale, white retinal swelling and a macular cherry-red spot. Fundus fluorescein angiography showed delayed arterial filling with persistently reduced macular perfusion. CRAO was diagnosed in an otherwise healthy young male. Systemic workup was negative except for protein electrophoresis, which showed sickle cell trait, and HbA1C was 7.8%. Later, atrophic macular changes with a pale optic disc were observed, and BCVA was reduced to light perception. CRAO in young patients amounts to diverse causes, which require extensive systemic workup. In addition, the concurrence of the sickle cell trait with diabetes mellitus might have a role in CRAO development.
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BACKGROUND/PURPOSE: To report a case of Stickler Type IV with familial exudative vitreoretinopathy phenotype. METHODS: Retrospective case report. RESULTS: A 24-year-old woman presented with right eye exotropia and decreased vision. She had no facial or typical retinal features of Stickler syndrome but complained of right-sided hearing loss and right-sided neck pain. Examination of the right eye showed a chronic combined exudative and traction retinal detachment with temporal retinal dragging associated with far temporal retinal exudations and fibrovascular proliferations. The left eye had an attached retina with large areas of peripheral temporal retinal nonperfusion on fluorescein angiography, sharply demarcated by end circulation vascular pruning and mild peripheral vascular leakage, consistent with familial exudative vitreoretinopathy phenotype. Genetic analysis identified two heterozygous c.1052C>A and c.1349A>G variants in COL9A1, but did not disclose any mutation in genes classically associated with familial exudative vitreoretinopathy. CONCLUSION: Familial exudative vitreoretinopathy-like retinal vascular features can be the presenting sign in patients with Stickler syndrome Type IV.
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Oftalmopatias Hereditárias , Descolamento Retiniano , Doenças Retinianas , Feminino , Humanos , Vitreorretinopatias Exsudativas Familiares , Estudos Retrospectivos , Descolamento Retiniano/diagnóstico , Retina , Angiofluoresceinografia , Doenças Retinianas/diagnóstico , Colágeno Tipo IXRESUMO
The manifestation of intermediate uveitis (IU) in patients with retinitis pigmentosa (RP) is uncommon and poses diagnostic and management challenges. In this case, we describe the clinical features and management outcomes in an RP patient with a novel homozygous splice site mutation in PRPF8. A 21-year-old male presented with unilateral decrease of vision in the right eye for 1 week. Retinal dystrophy features were present in the left eye. After 2 weeks of topical steroid therapy, near-total resolution of IU was achieved and vision improved to 20/30. Signs of (RP) were present bilaterally, with the right eye more affected than the left. Genetic testing indicated a novel homozygous c. 3061-6_3061-3del mutation in the PRPF8 gene. IU in young patients with RP can be effectively treated with a short course of topical steroids, sparing the need for systemic immunosuppressives. After the improvement in IU, the right eye showed more advanced RP changes.
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Retinose Pigmentar , Uveíte Intermediária , Adulto , Humanos , Masculino , Adulto Jovem , Mutação , Linhagem , Retinose Pigmentar/complicações , Retinose Pigmentar/genética , Proteínas de Ligação a RNA/genética , Uveíte Intermediária/diagnóstico , Uveíte Intermediária/etiologiaRESUMO
Introduction: Solitary uveal lesions confer a diagnostic challenge to ophthalmologists. Uveitic lesions most abundantly appear amelanotic and commonly involve the choroid. Most amelanotic choroidal lesions are either neoplastic or inflammatory in origin. In our study, we aimed to describe six uveitic granuloma cases, which were referred to a tertiary ophthalmology center as intraocular tumors. Methods: Retrospective chart review of 6 patients (7 eyes) who had uveitic granulomas and were referred to a tertiary ophthalmology center as having intraocular tumors. Results: Mean age on presentation was 47 ± 12.5 years. One lesion was involving the ciliary body only, five lesions had pure choroidal involvement, and one had ciliochoroidal involvement. Mean visual acuity on presentation was 1.7 ± 0.75 (Snellen = 20/1,000) and ranged from 20/80 to light perception. Mean basal diameter of all lesions was 7.7 ± 1.8 mm. Three lesions had moderate echogenicity, two lesions were low to moderate echoic, and one lesion had moderate to high echogenicity on ultrasonography. Three lesions were associated with retinal detachments. Five eyes showed an early hypofluorescence with late hyperfluorescence. Leakage of fluorescein at borders was noticed in 3 lesions. Final diagnosis was presumed intraocular tuberculosis in 4 patients, probable ocular sarcoidosis in 1 patient, and idiopathic solitary uveitic granulomas in 1 patient. Upon treatment, the vision improved to 0.3 ± 0.27 (Snellen = 20/40) and ranged from 20/20 to 20/100 after 4.7 ± 2.9 years of follow-up. Conclusions: Uveitic granulomas can demonstrate features of ocular tumors. Proper uveitis management leads to a favorable visual outcome and ocular preservation.
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PURPOSE: This study aims to measure the knowledge levels toward retinopathy of prematurity (ROP) among pediatricians covering neonatal intensive care units (NICUs) in the major hospitals in Tabuk, Saudi Arabia. To our knowledge, this is the first report to assess the awareness level of ROP in the NICU pediatricians in the region. PATIENTS AND METHODS: This is a quantitative, non-experimental, cross-sectional, descriptive study using self-administered electronic questionnaires to assess the knowledge level among NICU pediatricians at the main hospitals of Tabuk city. We used a self-administer online validated knowledge, attitude, and practice (KAP) questionnaire. A scoring system was implemented in the data analysis, depending on the correct chosen answers on the KAP questionnaire, to present the ROP knowledge level in the participants. RESULTS: The study included 41 NICU pediatricians. Most of the participants' age exceeded 40 years (51.2%). The majority were recruited from either King Salman Military hospital (34.1%) or King Khalid hospital (31.7%). The average frequency of preterm infants seen per month exceeded 15 infants among 41.4% of the respondents. Most pediatricians recognized the important treatment modalities available for ROP (92.7%); however, only 24.4% of them could recognize that 32 weeks or less is the gestational age of the screening criteria for ROP. The overall knowledge score ranged between 4 and 10, out of a possible maximum of 12 with a mean ± SD of (6.68±1.47). The majority (75.6%) believe that the ROP treatment can successfully prevent blindness. CONCLUSION: Our study demonstrated that the NICU pediatricians have good knowledge about the treatment modalities of ROP. However, their knowledge about the inclusion criteria of ROP screening was insufficient. Thus, we highlighted the necessity of raising the awareness level and the strict application of the clinical guidelines among NICU pediatricians and healthcare workers involved in managing ROP.
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PURPOSE: To report long term results of two cases treated with topical cyclosporin A 1% for keratitis associated with autoimmune polyglandular syndrome (APS1). OBSERVATIONS: A 25-year-old male and a 17-year-old female were referred from endocrinology as APS1-related autoimmune keratitis. Extended-duration treatment with topical cyclosporin A (CsA) 1% was used for 24 and 18 months, respectively. The first patient had improved best-corrected visual acuity (BCVA) from 20/200 and 20/300 in right and left eye to 20/60 in both eyes with markedly improved corneal opacification, while the second patient had improved BCVA from 20/400 and 20/300 in right and left eye to 20/160 in both eyes with persistent central stromal scarring in the right eye and discrete areas of stromal scarring in the left eye. CONCLUSIONS AND IMPORTANCE: Long-term topical CsA 1% offers a valuable option for treatment of APS1-related autoimmune keratitis.
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Purpose: To report a patient with Pierson syndrome who presented with neovascular glaucoma (NVG) after cataract surgery.Methods: Retrospective case report.Results: A 17-year old monocular female presented with sudden onset of pain and decreased vision in the right eye. On examination, she had intraocular pressure (IOP) of 50 mmHg, aggressive iris neovascularization (NVI) and 3-piece IOL. Fundus examination revealed pale disc with tessellated fundus and parapapillary atrophy. Vascular arcades were vertically stretched with avascular ischemic retina starting from the near periphery. Macula appeared thin and atrophic. An intravitreal injection of 0.05 mg/0.1 ml bevacizumab was given to the right eye followed by Ahmed glaucoma valve (AGV) implantation. Assessment of her brother revealed similar posterior segment changes. A subsequent urine analysis showed proteinuria and high albumin to creatinine ratio. Next-generation sequencing for LAMB2 gene revealed a homozygous c.4573 + 1 G > A variant confirming the diagnosis of Pierson syndrome.Conclusion: This case expands our knowledge on retinal ischemia in the setting of Pierson syndrome. Close monitoring after intraocular surgery is recommended to look for the development of NVG.
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Glaucoma Neovascular/etiologia , Laminina/genética , Síndromes Miastênicas Congênitas/complicações , Síndromes Miastênicas Congênitas/genética , Síndrome Nefrótica/complicações , Síndrome Nefrótica/genética , Facoemulsificação/efeitos adversos , Distúrbios Pupilares/complicações , Distúrbios Pupilares/genética , Adolescente , Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Terapia Combinada , Feminino , Implantes para Drenagem de Glaucoma , Glaucoma Neovascular/diagnóstico , Glaucoma Neovascular/terapia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Pressão Intraocular , Implante de Lente Intraocular/efeitos adversos , Masculino , Síndromes Miastênicas Congênitas/diagnóstico , Síndrome Nefrótica/diagnóstico , Distúrbios Pupilares/diagnóstico , Estudos Retrospectivos , Irmãos , Tonometria Ocular , Adulto JovemRESUMO
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone-rod synaptic disease, ON bipolar cell dysfunction with reduced cone sensitivity, CSNB with dysfunction of the phototransduction (Riggs type) and CSNB with cone-rod dystrophy, respectively. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.
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Proteínas de Ligação ao Cálcio/genética , DNA/genética , Oftalmopatias Hereditárias/epidemiologia , Doenças Genéticas Ligadas ao Cromossomo X/epidemiologia , Mutação , Miopia/epidemiologia , Cegueira Noturna/epidemiologia , Retina/fisiopatologia , Canais de Cátion TRPM/genética , Proteínas de Ligação ao Cálcio/metabolismo , Análise Mutacional de DNA , Eletrorretinografia , Oftalmopatias Hereditárias/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Incidência , Miopia/congênito , Miopia/genética , Cegueira Noturna/congênito , Cegueira Noturna/genética , Linhagem , Fenótipo , Arábia Saudita/epidemiologia , Canais de Cátion TRPM/metabolismoRESUMO
PURPOSE: To study the effects of perioperative uveitis control (PUC) on postoperative intraocular pressure (IOP) and uveitis activity in uveitic glaucoma (UG) patients who required glaucoma surgeries. PATIENTS AND METHODS: A retrospective chart review of 109 patients (120 eyes) which had glaucoma surgery for UG. A total of 66 eyes which had PUC were compared to 54 eyes which did not have. Measurements of IOP and uveitis activity were recorded preoperatively and over 2 years postoperatively. Average number of antiglaucoma medications and frequency of surgical failure were obtained in both groups. RESULTS: Over 2 years postoperatively, average IOP was lower in eyes which had PUC. Significant differences in IOP were found at 3 months (P = 0.004), 6 months (P = 0.001), 1 year (P < 0.001), and 2 years (P < 0.001). Lower grades of anterior chamber (AC) inflammation were found in eyes which had PUC. Significant differences were found at 1 month (P < 0.001), 3 months (P < 0.001) and 6 months (P = 0.001). Mean number of antiglaucoma medications at last visit was 0.7 ± 1.1 for eyes which had PUC and 2.6 ± 1.5 for eyes which did not have PUC (P < 0.001). Among eyes which had PUC, only two eyes required second glaucoma surgeries, while 16 eyes with no PUC required further glaucoma surgeries after 27.7 ± 12.5 months (P < 0.001). CONCLUSION: Proper PUC in patients going for UG surgeries results in lower IOP levels and less AC inflammation over 2 years postoperatively. A comprehensive PUC regimen is needed for uveitic glaucoma patients going for surgeries.
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Blau syndrome (BS) is a rare granulomatous disease with autosomal dominant inheritance. It is characterized by a triad of dermatitis, arthritis, and recurrent uveitis. This case presents the onset of panuveitis in BS after intraocular surgery. A 10-year-old boy presented to the outpatient clinic with retinal detachment in the left eye after 6 years following early-onset cataract surgery. Bilateral panuveitis occurred 3 weeks after surgical repair and resulted in a total visual loss in the left eye and was persistent to conventional treatment in the right eye. Genetic testing revealed a mutation in NOD2 gene. The addition of adalimumab to the treatment regimen resulted in long-term uveitis control and maintenance of 20/70 vision in the right eye. We propose that NOD2-mediated inflammatory cascade can be activated by intraocular surgery and results in the manifestation of BS.
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Artrite , Pan-Uveíte , Sarcoidose , Uveíte , Artrite/genética , Criança , Humanos , Masculino , Proteína Adaptadora de Sinalização NOD2/genética , Pan-Uveíte/etiologia , Pan-Uveíte/genética , Sinovite , Uveíte/etiologia , Uveíte/genéticaRESUMO
Importance: Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous variant in this gene and a macular dystrophy is described here. Objective: To describe an autosomal recessive macular dystrophy associated with a recurrent variant in CLN5. Design, Setting, and Participants: This cohort study took place at a national referral center and had a follow-up duration ranging between 1 and 5 years. All patients who were identified to carry a specific homozygous missense variant in CLN5, among more than 2000 patients who were diagnosed with or suspected to have retinal dystrophies, who did not carry this variant, were included. Data were collected between June 2014 and September 2020. Exposures: All patients who were sampled for DNA analysis due to molecularly unconfirmed retinal dystrophy and who were subsequently identified to carry the homozygous missense variant c.415T>C (p.Phe139Leu) in CLN5 were included, while patients who did not carry the variant were excluded. Main Outcomes and Measures: Retinal phenotype associated with this specific homozygous missense variant in CLN5. Results: Seven affected patients (mean [SD] age, 43 [18] years; age range, 33-52 years; 5 male) carried the homozygous missense in CLN5. All patients were diagnosed as having a macular dystrophy. Four patients had mild electroretinographic alterations. All patients had hypoautofluorescent maculas with retinal thinning (central subfield thickness, 80 µm). Visual acuity ranged between 2/200 and 20/100. Neurologic symptoms were mild (dizziness) in 5 patients and absent in 2 patients. Neuroimaging demonstrated cerebellar atrophy and white matter lesions, respectively, in 2 patients. Conclusions and Relevance: These results suggest that CLN5, similar to CLN7, may be associated with isolated macular dystrophy as well as neuronal ceroid lipofuscinosis. The variant c.415T>C p.Phe139Leu does not seem to be associated with any prominent neurologic disease at least until the fourth to sixth decades of life. These findings may imply a specific role of CLN5 in macular neurons. Additional study is suggested, such as molecular screening for this variant in cohorts of patients with undiagnosed macular dystrophies and biological studies of its molecular effects.
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DNA/genética , Proteínas de Membrana Lisossomal/genética , Degeneração Macular/genética , Mutação de Sentido Incorreto , Adulto , DNA/metabolismo , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Humanos , Proteínas de Membrana Lisossomal/metabolismo , Degeneração Macular/diagnóstico , Degeneração Macular/metabolismo , Masculino , Pessoa de Meia-Idade , Lipofuscinoses Ceroides Neuronais , Fenótipo , RecidivaRESUMO
PURPOSE: To report the poor visual outcome of ruptured globe caused by camel bites. OBSERVATIONS: A 48-year-old camel caregiver presented to the emergency department after being bitten by a camel in the left side of his face. Ophthalmic examination revealed a superior scleral wound from 9 to 2 o'clock, about 6 mm from the limbus extending to the equator with prolapse of uveal and vitreous tissues, an opaque cornea, total hyphema, diffuse subconjunctival hemorrhage, and a lower lid laceration involving the lid margin and the nasolacrimal duct. The patient has undergone surgical repairs of ruptured globe and lid laceration, followed by retinal detachment surgery. Following these surgical interventions, the patient preserved a light perception vision with flat retina. CONCLUSION: Camel-related injuries might primarily involve the ophthalmic structures, especially in camel bites. Camel-related eye trauma might lead to poor visual and anatomical outcomes which might not improve following surgical interventions.
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OBJECTIVE: We examined the incidence and natural history of macular retinochoroidal neovascularization (RCN) in enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. METHODS: This single-center study included 14 of 93 patients with ESCS who had signs of active or inactive RCN in ≥1 eye. We conducted multimodal retinal imaging, full-field electroretinography, and molecular genetic analysis of NR2E3 gene. Our main outcome measures included the cumulative incidence of RCN in ESCS, type of RCN, and mode of evolution of RCN. RESULTS: Fourteen (15.1%) of 93 patients with ESCS had RCN in ≥1 eye at 2 to 27 years of age. All 22 RCNs (21 eyes of 14 patients) were macular. Twelve of the RCNs were active with exudates/hemorrhages. Of these, 5 appeared de novo in a subretinal location, with photographic evidence of no pre-existing lesions. The latter were compatible with type 3 neovascularization or retinal angiomatous proliferation and subsequently evolved into unifocal fibrotic nodules. The remaining active lesions all had some degree of pre-existing fibrosis and remained stable. Ten inactive fibrotic nodules, identical to end-stage de novo lesions, were found and were presumed to represent healed RCNs. CONCLUSIONS: RCN, a treatable condition, may occur as early as 2 years of age and may be much more common in patients with ESCS than previously estimated. It may be the primary cause of the unifocal submacular fibrosis that is commonly observed in this condition. Additional research is needed to establish the pathogenesis of RCN in patients with ESCS and its optimal management.
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Neovascularização de Coroide/epidemiologia , Oftalmopatias Hereditárias/complicações , Células Fotorreceptoras Retinianas Cones/patologia , Degeneração Retiniana/complicações , Neovascularização Retiniana/epidemiologia , Tomografia de Coerência Óptica/métodos , Transtornos da Visão/complicações , Acuidade Visual , Campos Visuais/fisiologia , Adolescente , Adulto , Criança , Pré-Escolar , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/etiologia , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Feminino , Humanos , Incidência , Lactente , Masculino , Degeneração Retiniana/diagnóstico , Neovascularização Retiniana/diagnóstico , Neovascularização Retiniana/etiologia , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Transtornos da Visão/diagnóstico , Adulto JovemRESUMO
BACKGROUND: Central serous chorioretinopathy (CSCR) is an idiopathic condition characterized by serous retinal detachment and/or retinal pigment epithelial (RPE) detachment, the condition associated with a fluid leak through the RPE into subretinal space. This article reports on an unusual case of CSCR following taking adulterated honey mixed with tadalafil powder. CASE PRESENTATION: A 38-year-old male, not known to have any medical illnesses, came to our ophthalmology clinic complaining of sudden onset of blurred central vision in the left eye for five days after taking an adulterated honey which was claimed to improve sexual performance. On taking a history, the patient denied taking any medications or past eye trauma or surgery. On detailed ophthalmologic examination, the best-corrected visual acuity (BCVA) was 20/20 in the right eye and 20/80 in the left eye. Dilated fundus examination of the right eye showed a flat retina, normal macular reflex, healthy optic nerve head and the left eye showed blunt foveal reflex with neurosensory retinal detachment at the macula and subretinal fluid. Optical coherence tomography (OCT) of the left eye showed marked macular thickening, leading to the impression of central serous chorioretinopathy (CSCR). Four weeks after stopping the adulterated honey, BCVA improved to 20/20 in the left eye, with complete resolution of subretinal fluids. CONCLUSION: Our case adds to recently reported cases of a link between tadalafil and CSCR.
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Congenital retinal macrovessel (CRM) is an aberrant retinal blood vessel, which crosses the central macula and has tributaries extending on both sides of the horizontal raphe. It is a rare vascular condition, usually asymptomatic and incidentally discovered on routine fundus exam. This report describes a case of venous CRM associated with visual impairment secondary to choroidal nonvascular membrane (CNV). Treatment with intravitreal injection of aflibercept resulted in a favourable visual as well as anatomical outcome.
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PURPOSE: To describe a new form of childhood-onset rhegmatogenous retinal detachment (RRD) in autosomal recessive high myopia associated with mutations in LRPAP1. DESIGN: Retrospective cohort study. PARTICIPANTS: A total of 12 children (24 eyes) with recessive LRPAP1 mutations and associated high myopia. METHODS: Serial ophthalmological examination and retinal imaging during 4.6±1.9 (mean ± standard deviation) years. Retinal interventions included prophylactic laser and surgical retinal repair. MAIN OUTCOME MEASURES: Incidence and recurrence rate of RRD and retinal break formation. Association between LRPAP1 genotypes and RRD characteristics. RESULTS: Some 42% of children (5 children [6 eyes]) developed RRD at the age of 10.43±0.97 years. Four of the children who developed RRD were male (80%), and 1 was female (20%). Visual acuity was significantly reduced in eyes with RRD at presentation and at the most recent visit compared with eyes with no RRD (P < 0.001 for both). Two eyes had inoperable RRD. Four eyes for which primary retinal repair was done had redetachment (100% of operated eyes) due to variable degrees of proliferative vitreoretinopathy (PVR). Reattachment after surgical repair, which was maintained at least during 6 months of follow-up, was achieved in 3 eyes (75%), with final visual acuities of 20/300 in 2 eyes and 20/400 in 1 eye. CONCLUSIONS: This is the first description of a nonsyndromic, high myopia-related, recessive RRD without any signs of vitreoretinal degeneration. Recessive LRPAP1 gene mutations confer a high risk of childhood-onset RRD and PVR. Proliferative vitreoretinopathy in turn increases the risk of recurrent RRD and may lead to blindness. Recognizing the LRPAP1-related high myopia phenotype is important, and early childhood examination with additional close follow-up and prophylactic retinal laser should be considered.