Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies.

PURPOSE: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of Spain. METHODS: All patients with an IRD seen in the two major referral units of Castilla y Leon during a 20-year period were included. The ages at symptom onset, diagnosis, and the last visit; sex; family history; history of consanguinity; type of inheritance; status of the fundus and electroretinogram findings; lens and macular status, visual acuity; and visual field data were recorded. Patients were divided into those with retinitis pigmentosa (RP) and all others. Gene mutations were gathered when available. RESULTS: Four hundred eighty-eight patients with IRDs were studied: 216 (44.26%) with RP of which 34 (15.74%) had syndromic diseases, and 272 had other conditions being 161 (59,19%) macular dystrophies. The mean delay in diagnosis was 6-16.2 years respectively. For the RP group the mean age at the last visit was 47.96±17,26; mean age of cataract surgery was 48.30 ± 12.01 years; and the foveal area was preserved in 74 (35.07%) patients, atrophic in 101 (47.87%), and edematous in 36 (17.06%). A genetic study had been performed in 58 (26.85%) of patients with RP and 71 (26,1%) of the rest, being indeterminate in 17 (29.31%) out of RP group and 20 (28.16%) out of the others. CONCLUSION: Clinical characteristics are comparable to other published series. There is a significant delay in diagnosis. The number of patients with IRDs and available genetic diagnosis, thus being possible candidates for undergoing personalized treatments including gene therapy in our region is low and must be improved.

Predictive models of long-term anatomic outcome in age-related macular degeneration treated with as-needed Ranibizumab.

BACKGROUND: To analyze predictors and develop predictive models of anatomic outcome in neovascular age-related macular degeneration (AMD) treated with as-needed ranibizumab after 4 years of follow-up. METHODS: A multicenter consecutive case series non-interventional study was performed. Clinical, funduscopic and OCT characteristics of 194 treatment-naïve patients with AMD treated with as-needed ranibizumab for at least 2 years and up to 4 years were analyzed at baseline, 3 months and each year until the end of the follow-up. Baseline demographic and angiographic characteristics were also evaluated. R Statistical Software was used for statistical analysis. Main outcome measure was final anatomic status. RESULTS: Factors associated with less probability of preserved macula were diagnosis in 2009, older age, worse vision, presence of atrophy/fibrosis, pigment epithelium detachment, and geographic atrophy/fibrotic scar/neovascular AMD in the fellow eye. Factors associated with higher probability of GA were presence of atrophy and greater number of injections, whereas male sex, worse vision, lesser change in central macular thickness and presence of fibrosis were associated with less probability of GA as final macular status. Predictive model of preserved macula vs. GA/fibrotic scar showed sensibility of 77.78% and specificity of 69.09%. Predictive model of GA vs. fibrotic scar showed sensibility of 68.89% and specificity of 72.22%. CONCLUSIONS: We identified predictors of final macular status, and developed two predictive models. Predictive models that we propose are based on easily harvested variables, and, if validated, could be a useful tool for individual patient management and clinical research studies.

Funduscopic results after 4-year follow-up treatment with ranibizumab for age-related macular degeneration in a region of Spain.

BACKGROUND: The study aims to survey longstanding funduscopic and functional outcomes of age-related macular degeneration (AMD) after ranibizumab treatment and verify the accuracy of a new method to compare the retinal thickness measured with different optical coherence tomography (OCT) tools. METHODS: Case series included 314 eyes with 2-4 years of follow-up. Main Outcome Measures were visual acuity (VA), number of injections, retinal thickness, OCT morphology, and final macular funduscopic status. RESULTS: One hundred twenty-two men and 177 women (mean age, 78.3 years) were included. The mean time to the first injection was 17.3 ± 14.6 days. Initial VA was O.8(20/125) ± 0.5; 0.7(20/100) ± 0.5 at 3 months; 0.8(20/125) ± 0.5 at a year; 1(20/200) ± 0.6 at year 2; 1(20/200) ± 0.6 at year 3 and 1.1(20/250) ± 0.6 at year 4. Number of visits at 3 months was 2.7 ± 0.8; 7.3 ± 2.1 at a year; 5.2 ± 2.7 along the 2nd year; 3.9 ± 2.3 at year 3 and 3.6 ± 2.2 at year 4. Number of injections at 3 months was 2.6 ± 0.5; 3.9 ± 1.5 at a year; 1.1 ± 1.5 along the 2nd year; 1.5 ± 2.4 at year 3 and 1.8 ± 3.1 at year 4. Patients with worse VA outcomes received more injections and were older. The formula to calculate changes in retinal thickness showed a 30% reduction in thickness, which correlated well with the OCT morphology. Patients with polypoidal choroidal vasculopathy (PCV) had a worse final outcome. The final disciform macular status (37%) was related to fewer injections and a greater decrease in thickness. Final well-preserved maculas (12.%) needed more injections and treatment changes; those that were atrophic at the final visit (30.8%) had a worse initial VA and greater decrease in thickness at the 3-month visit. CONCLUSIONS: Younger patients had better final outcomes. Our method to compare retinal thickness using different OCT tools worked well. The final visual outcome after a long follow-up was poor, which may be related to advanced age, poor initial VA, and the high incidence of final fibrosis or atrophy.

Autofluorescence Images with Carl Zeiss versus Topcon Eye Fundus Camera: A Comparative Study.

Purpose. To compare the autofluorescence images of the Zeiss versus Topcon eye fundus cameras and design an objective way to quantify it. Procedures. The IMAGEJ software was used to determine the gray level corresponding to the darkest veins and the peripapillary ring (thresholds), the level of white of the brightest perifoveal area, their difference (contrast level), and the suprathreshold area for each photograph. Results. Carl Zeiss has higher contrast values than Topcon. The Topcon contrast presented a crest with further decline as the suprathreshold area continued to increase. On the contrary, the Zeiss profile did not decline in contrast. Conclusions and Message. The Carl Zeiss camera showed superior contrast ability over the Topcon when performing autofluorescence imaging. We set objective parameters to compare fundus cameras FAF images. These parameters could be the base to objectively measure and determine changes and realize followup to areas of hyper- or hypofluorescence.

Retinal pigment epithelium tears in age-related macular degeneration treated with antiangiogenic drugs: a controlled study with long follow-up.

PURPOSE: To study whether anti-vascular endothelial growth factor (VEGF) therapy improves visual acuity (VA) in patients with exudative age-related macular degeneration (AMD) complicated with retinal pigment epithelium (RPE) tears. METHODS: Retrospective case-control series. Group I (control group) included 9 patients with RPE tears that received no treatment, and group II (intervention group) incorporated 12 patients treated with anti-VEGF. RESULTS: A statistically significant difference was found in VA between the groups from the 3rd month to the final follow-up (p = 0.034). Final VA improved in the treatment group (p = 0.015). No differences were found in central macular thickness between the groups either before or after treatment. Mean number of injections in group II was 5.75 (SD = 1.19). Most patients presented a grade 3 rip. All lesions were inactive at the end of follow-up in group II and 1 remained active in group I. The number of final atrophic/disciform scars was 6/8 in group I and 7/5 in group II. CONCLUSIONS: RPE tears treated with antiangiogenic drugs experienced functional benefit. To the authors' knowledge, this is the first controlled series reporting effectiveness of suppression of neovascular activity with antiangiogenic treatment after RPE rip in AMD.

Pathology associated with optical coherence tomography macular bending due to either dome-shaped macula or inferior staphyloma in myopic patients.

PURPOSE: To evaluate the prevalence of and describe the pathology associated with macular bending (MB) defined as a smooth macular elevation found in optical coherence tomography (OCT) of patients with high myopia related to either dome-shaped macula (DSM) or the border of an inferior staphyloma. PROCEDURES: We reviewed the 330 files of all highly myopic patients in our database that had had an OCT performed in the last 5 years. Main outcome measures were MB prevalence and its associated pathology. RESULTS: Sixty-eight eyes from 45 patients (13.63%) presented MB; 23 bilateral, 40 in a posterior pole or macular staphyloma and 21 in an inferior staphyloma. Eighteen eyes presented choroidal neovascularization (CNV), 7 subretinal fluid without CNV, 11 retinoschisis and 3 a macular hole which had been stable for years. No differences were found in the rate of complications between patients with DSM or inferior staphyloma. CONCLUSIONS: MB is not an uncommon clinical feature. Associated pathology prevalence in MB was elevated and similar in posterior and inferior staphylomas.

Benign fleck retinal findings on multifocal ERG, microperimetry, and OCT.

A middle-aged asymptomatic woman presented with multiple yellow-white flecks in the retinal pigment epithelium (RPE) affecting both fundi in a symmetrical pattern. The lesions were distributed around the posterior pole and midperiphery but sparing the macula, a picture similar to what was defined by Gass as benign fleck retina. Visual acuity, visual fields, full-field electroretinogram, electrooculogram, and dark adaptation were normal. Multifocal electroretinogram [0] (mfERG) was slightly subnormal in the isopters 17° to 20°. In this same area, microperimetry confirmed a mild decrease in sensitivity more patent in the upper temporal sector where some hypoautofluorescent spots were detected. Optical coherence tomography (OCT) obtained through the flecks revealed a small increase in the thickness of the RPE. Autofluorescence showed increased autofluorescence within the flecks. OCT confirmed the anatomical location of the defect, whereas mfERG and microperimetry demonstrated for the first time that benign fleck retina can entail a functional defect.

PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.

PURPOSE: To assess the occurrence of PRPH2 mutations in patients presenting macular dystrophies and to describe their phenotype-genotype correlation. METHODS: A total of 32 sporadic cases and 13 individuals from 5 families were studied. The patients presented early onset drusen, suspected pattern dystrophy (including adult-onset foveomacular vitelliform dystrophy [AOFVD]), or any presumed macular dystrophy producing neovascularization or atrophic changes documented before patients reached 50 years of age. In case of atrophy, this could be confined to the macula, which was considered to be central areolar choroidal dystrophy (CACD), or extend to the midperiphery of the retina, which we called diffuse macular dystrophy (DMD). Clinical workup and analysis of PRPH2, EFEMP1, and TIMP3 genes were done. RESULTS: Four mutations of the PRPH2 gene were found in 3 sporadic cases and 3 families (n = 11). A p.R46X mutation, previously described in CACD, was found in 3 members of a family with AOFVD and in a sporadic case with DMD. A p.L45F mutation, described before in retinitis pigmentosa, was found in a sporadic case of AOFVD. A p.R195L mutation previously described in CACD was found in 2 members of a family with CACD. The latter was found in a family and a sporadic case (from the same village as the family) and all of them presented DMD. A new p.V2091 mutation was found in a patient with AOFVD. CONCLUSIONS: New phenotypes were found for known mutations. No phenotype variation was observed in the members of the 3 families. A new mutation in PRPH2 gene was found.

Bilateral endogenous endophthalmitis due to pseudomonas aeruginosa in a neonate.

BACKGROUND: Bacterial eye infections are rare in the neonatal population and usually come from exogenous spread. Eye infection due to Pseudomonas aeruginosa, although uncommon, may be a devastating disease, especially in premature infants. METHODS: Retrospective review of the clinical chart of a 10-day-old newborn baby with bilateral endogenous Pseudomonas aeruginosa endophthalmitis. RESULTS: The patient presented with leukokoria in both eyes 7 days after the onset of severe septicemia due to endophthalmitis in both eyes. The baby received systemic treatment with meropenem and vancomycin, which the cultured bacteria were susceptible to, but the infection progressed. Intravitreal ceftazidime treatment and later vitrectomy could not prevent complete retina detachment and the progressive evolution to phthisis. CONCLUSION: Aggressive therapy including systemic antibiotics, intravitreous antibiotic injection, and vitrectomy could not prevent a poor outcome leading to retinal detachment and blindness in both eyes. A discussion of the treatment options and a review of the literature are also included.

Atypical myopic retinoschisis.

A 34-year-old woman with a refraction of-11 diopters in both eyes presented with a central scotoma and metamorphopsia in her right eye related to a juxtafoveal hemorrhage. Fluorescein angiography ruled out choroidal neovascularization and lacquer cracks. Optical coherence tomography revealed retinal splitting in the juxtafoveal area and the peripapillary area. No ophthalmoscopic peripheral abnormalities were observed. This is an atypical example of schisis associated with myopia because it was symptomatic, associated with hemorrhage, and did not affect the fovea. This may be an extension to the macula of a subclinical peripheral retinoschisis that became progressive and symptomatic due to vitreous tractional forces.

Photodynamic therapy for subfoveal and juxtafoveal choroidal neovascularization associated with punctate inner choroidopathy.

PURPOSE: To evaluate the treatment of subfoveal and juxtafoveal choroidal neovascularization (CNV) using verteporfin photodynamic therapy (vPDT) in patients affected by punctate inner choroidopathy (PIC). METHODS: A chart review of 8 patients with CNV associated with PIC treated with vPDT was done. RESULTS: The 8 patients (8 eyes) included 4 men and 4 women with a mean age of 30.9 years. Six of them presented juxtafoveal CNVs, and two had subfoveal CNVs, at presentation. Mean follow-up time was 22.7 months. The VA improved in five eyes, and three eyes declined. One patient developed a new CNV a few days after vPDT, and one had multiple CNVs at presentation. Two of the 3 patients with longer follow-up period presented late recurrences. CONCLUSIONS: vPDT is a beneficial resource in stabilizing and also improving VA in PIC patients affected with subfoveal and juxtafoveal CNV, although one third of the patients retain poor visual acuity.