The Michigan Retinal Degeneration Questionnaire: A Patient-Reported Outcome Instrument for Inherited Retinal Degenerations.

PURPOSE: To create a psychometrically validated patient-reported outcome measure for inherited retinal degenerations. DESIGN: Qualitative and quantitative patient-reported outcome (PROs) questionnaire development using item response theory validation. METHODS: One hundred twenty-eight patients with a diagnosis of an inherited retinal degeneration at the Kellogg Eye Center (University of Michigan) were recruited and administered a 166-item questionnaire comprising 7 expert-defined domains. The questionnaire was re-administered 4-16 days later to a subset of 25 participants to assess test-retest variability. Graded response models were fit by Cai's Metropolis-Hastings Robbins-Monro algorithm using the R (version 3.6.3) package mirt. Model data were fit to assess questionnaire dimensionality, to estimate item information, and to score participants. Poorly functioning items were removed, and the model was refit to create the final questionnaire. RESULTS: The psychometrically validated PROs measure was reduced to a 59-item questionnaire measuring 7 unidimesnional domains: central vision, color vision, contrast sensitivity, scotopic function, photopic peripheral vision, mesopic peripheral vision, and photosensitivity. A total of 39 items were removed because of poor factor loading, low item information, poor person-ability differentiation, or high item-level interdependence. This novel questionnaire produces a reliable domain score for person ability that does not show significant test-retest variability across repeated administration. CONCLUSIONS: The final PRO questionnaire, known as the Michigan Retinal Degeneration Questionnaire, is psychometrically validated and available for use in the evaluation of patients with inherited retinal degenerations.

Electronegative Electroretinograms in the United Arab Emirates.

PURPOSE: An electronegative electroretinogram (ERG), defined as having a b:a wave ratio ≤1 in the scotopic flash ERG response, indicates relative inner retinal dysfunction. Causes vary depending upon the study population. In the Arabian Gulf, where inherited retinal disease is relatively prevalent, common diagnoses associated with electronegative ERGs have not been described. In this study, we report the frequency and causes of electronegative ERGs in a cohort of Emirati patients with inherited retinal disease. METHODS: A retrospective review was performed of all full-field ERGs done for Emirati patients in the Ocular Genetics Service of Cleveland Clinic Abu Dhabi from January 2017 to December 2019. Those who had an electronegative ERG in at least one eye were included in the study. RESULTS: Out of 137 patients, 9 probands (6.6%) had an electronegative ERG. The mean age at presentation was 24 years (range 5-48 years), and five patients (55.6%) were male. The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1-related and one Oguchi disease), X-linked retinoschisis (XLRS) (one genetically confirmed and two not genetically tested), cone-rod dystrophy (one CRX-related and one not genetically tested), and enhanced S-cone syndrome (ESCS) (one NRL-related). The one patient who did not have bilateral electronegative ERGs was a male with XLRS whose fellow eye had an unrecordable ERG. CONCLUSIONS: In this series of Emirati patients, an electronegative ERG was most commonly associated with the inherited retinal diseases recessive CSNB and XLRS. An electronegative ERG was noted in a case of NRL-related ESCS.

Why Miss the Chance? Incidental Findings while Telescreening for Diabetic Retinopathy.

PURPOSE: To report on incidental pathological findings met while screening for Diabetic Retinopathy (DR) in Diabetes Clinics (DC) by ophthalmologist-graded digital fundus imaging. METHODS: At the DC of Pescara (central Italy), for 3,859 eyes of 1,930 consecutive patients having not undergone fundus examination in the last year, two mydriatic fundus digital images, taken with a CenterVue DRS Digital Retinal Camera, were sent along with Best Corrected Visual Acuity, on a "store-and-forward" basis, to an ophthalmologist trained in DR screening, and graded according to the UK Diabetic Eye Screening Programme. Incidental fundus abnormalities other than DR were reported. RESULTS: No adverse event to mydriasis was reported. One hundred and eighty eyes (4.66%) were ungradable. Among the 3,679 gradable ones, 1,105 (30.04%) showed different degrees of DR (R1 to R3), and 126 (3.42%) maculopathy (M1). Any Age-Related Macular Degeneration was present in 387 eyes (10.52%), any optic disc and parapapillary area features suspect for glaucoma in 562 eyes (15.27%), any hypertensive retinopathy in 1,263 eyes (34.33%), vitreoretinal interface disease in 252 eyes (6.84%), myopic choroidopathy in 92 eyes (2.50%), disc pallor in 31 eyes (0.84%). Mean time was 5 min for screening, 2 min for grading. CONCLUSION: Teleretinography is a well-established, cost-effective procedure in DR screening. Along with increased attendance, locating a digital camera in a DC with a retina-specialist grader results in finding fundus pathologies also beyond DR, very similarly to fundus examination in an outpatient ophthalmic setting.

Coexistence of Peripheral Retinal Diseases with Macular Hole

Objectives: To investigate the frequency of retinal tear, retinal hole, and lattice degeneration in peripheral retinal examination of patients with macular hole. Materials and Methods: The files of patients who underwent pars plana vitrectomy surgery with a diagnosis of macular hole at Eskisehir Osmangazi University Department of Ophthalmology between 2008 and 2018 were retrospectively analyzed. A total of 106 patients with primary macular hole who underwent peripheral retinal examination were included in the study. The frequency of retinal tears, holes, and lattice degeneration associated with macular hole was investigated. Results: Peripheral retinal examination of 106 patients who underwent macular hole surgery revealed retinal tear in 3 patients (2.8%), retinal hole in 4 patients (3.8%), and lattice degeneration in 10 patients (9.4%). Retinal hole and lattice degeneration were observed concomitantly in 1 patient. Conclusion: This study showed that patients with macular hole have concomitant retinal tears and holes, which are also thought to arise due to vitreoretinal traction, at a frequency similar to that in the general population. This result suggests that both the anterior and posterior vitreous may have different pathologies at the same time related to these diseases.

The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.

PURPOSE: To study the genetic aetiology and phenotypes of retinal degeneration (RD) in Finnish children born during 1993-2009. METHODS: Children with retinal degeneration (N = 68) were investigated during 2012-2014 with a targeted gene analysis or a next-generation sequencing (NGS) based gene panel. Also, a full clinical ophthalmological examination was performed. RESULTS: The cohort covered 44% (68/153) of the Finnish children with inherited RD born 1993-2009. X-linked retinoschisis, retinitis pigmentosa, Leber congenital amaurosis and cone-rod dystrophy were the most common clinical diagnoses in the study group. Pathogenic mutations were found in 17 retinal genes. The molecular genetic aetiology was identified in 77% of the patients (in 77% of the families) analysed by NGS method. Several founder mutations were detected including three novel founder mutations c.148delG in TULP1, c.2314C>R (p.Gln772Ter) in RPGRIP1 and c.533G>A (Trp178Ter) in TYR. We also confirmed the previous tentative finding of c.2944 + 1delG in GYCU2D being the most frequent cause of Leber congenital amaurosis (LCA) in Finland. CONCLUSIONS: Globally, RD is genetically heterogeneous with over 260 disease genes reported so far. This was shown not to be the case in Finland, where the genetic aetiology of RD is caused by a small group of genes, due to several founder mutations that are enriched in the population. We found that X-chromosomal retinoschisis constitutes the major group in Finnish paediatric RD population and is almost exclusively caused by two founder mutations. Several other founder mutations were detected including three novel founder mutations. All in all, the genetic aetiology of 77% of families was identified which is higher than previously reported from other populations, likely due to the specific genomic constitution of the Finns.

Enhanced S-cone syndrome: Clinical spectrum in Indian population.

PURPOSE: Enhanced S-cone syndrome (ESCS), a rare disorder, is often misdiagnosed as other forms of retinal degenerations, which have a poorer prognosis than ESCS. The aim of this study is to report the varied clinical features of ESCS and distinguish it from other similar disorders. METHODS: We retrospectively scrutinized the records of patients with confirmed diagnosis of ESCS and analyzed the findings. RESULTS: We included 14 patients (age range 4-39 years) who were confirmed to have ESCS according to pathognomonic electroretinography (ERG) showing reduced photopic, combined responses, and 30 Hz flicker with reduced L, M cone responses and supernormal S cone responses. The disease presented in the 1st decade with night blindness and was almost stationary or minimally progressive. Mid-peripheral fundus changes in form of nummular pigmentary alterations, yellow punctate lesions, and macular schisis were noted. The vision ranged from 6/6 to 6/36 with follow-up ranging from 1month to 22 years. CONCLUSION: ESCS shows varied clinical features ranging from unremarkable fundus to pigment clumping and atrophic lesions. It has good prognosis with patients mostly maintaining their vision. ERG is diagnostic. More awareness and knowledge about this entity can help to differentiate it from other forms of night blindness.

Peripapillary retinal nerve fiber layer and ganglion cell complex degeneration in Egyptian patients with bipolar disorder.

PURPOSE: To determine if changes in OCT parameters including peripapillary RNFL thickness and GCC thickness in Egyptian patients with bipolar disorder exist, and to correlate them with disease severity and clinical characteristics. METHODS: A case-control study conducted on 40 patients with bipolar disorder were compared to 40 matched healthy controls. Both patients and controls were subjected to ophthalmic examination including: BCVA, slit-lamp examination, fundus examination, and OCT imaging. Patients were also subjected to Young Mania Rating Scale (YMRS). RESULTS: Thinning of average (RNFL) and average (GCC) thickness of right and left eye in patients with BPD (whether received electroconvulsive therapy or not) when compared with control subjects. Number of episodes, age at onset and severity of disease showed insignificant correlation with OCT parameters. CONCLUSIONS: Significant degenerative changes were detected by OCT in patients with bipolar disorder that were not affected by receiving ECT and not related to disease severity or duration.

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

X-linked retinitis pigmentosa (XLRP) is a type of severe retinal dystrophy, and female carriers of XLRP demonstrate markedly variable clinical severity. In this study, we aimed to elucidate the clinical findings of male patients with and female carriers of XLRP in a Japanese cohort and demonstrate the genetic contribution. Twelve unrelated families (13 male patients, 15 female carriers) harboring pathogenic mutations in RPGR or RP2 were included, and comprehensive ophthalmic examinations were performed. To identify potential pathogenic mutations, targeted next-generation sequencing was employed. Consequently, we identified 11 pathogenic mutations, of which five were novel. Six and five mutations were detected in RPGR and RP2, respectively. Only one mutation was detected in ORF15. Affected male patients with RP2 mutations tended to have lower visual function than those with RPGR mutations. Female carriers demonstrated varying visual acuities and visual fields. Among the female carriers, 92% had electroretinographical abnormalities and 63% had a radial autofluorescent pattern, and the carriers who had higher myopia showed worse visual acuity and more severe retinal degeneration. Our results expand the knowledge of the clinical phenotypes of male patients with and female carriers of XLRP and suggest the possibility that RP2 mutations are relatively highly prevalent in Japan.

Optical coherence tomography and molecular analysis of sudden acquired retinal degeneration syndrome (SARDS) eyes suggests the immune-mediated nature of retinal damage.

OBJECTIVE: To perform detailed analysis of retinal changes in dogs with SARDS using optical coherence tomography (OCT), funduscopy, and molecular analysis. ANIMALS: Subjects were 29 dogs from 12 US states and Canada diagnosed with SARDS by 8 ophthalmologists. An additional 7 eyes from 5 deceased SARDS dogs were used for molecular and histological analysis. PROCEDURES: Dogs were evaluated using chromatic pupil light reflex testing (cPLR), and electroretinography (ERG); subjects underwent complete ophthalmic examination, including funduscopy, retinal photography, and OCT, in addition to complete laboratory analysis, blood pressure evaluation, abdominal and thoracic radiographs, and computerized tomography (CT) imaging to assess possible systemic abnormalities. Histology and immunohistochemistry analysis was performed in 2 SARDS eyes. Microarray analysis was performed in 5 SARDS retinas. RESULTS: Thirty-eight percent of patients had <1-mm wide retinal detachments (RD) on OCT analysis, which could not be detected by funduscopy or retinal photographs. Systemic hypertension did not seem to be a contributing factor (RD 22.2%; ND 20%, Odds ratio = 1.1). No dogs showed neoplastic changes by thoracic or abdominal radiography, or CT imaging. There was no statistically significant difference in age (RD 7.9 ± 1.9 years (mean ± SD); ND 7.6 ± 1.7 years, p = 0.69) or duration of blindness prior to presentation (RD 18 ± 7 days (mean±SD); ND 21 ± 12 days, p = 0.28). Microarray and histology analysis of SARDS eyes revealed molecular changes suggestive of immune-mediated damage. CONCLUSIONS: Observed histological, molecular, and OCT changes are highly suggestive of immune-mediated damage in SARDS eyes.

The assessment of retina in pregnant women with myopia.

OBJECTIVES: Myopia is associated with increased frequency of retinal degenerative changes which are the risk factors of intra- and postpartal ophthalmological complications. Aim of this study was to analyze the degenerative lesions detected in opthalmological examination (including peripheral retinal lesions) as a potential risk factors for eyes' status in terms of delivery in myopic women. MATERIAL AND METHODS: 254 pregnant women affected with myopia underwent opthalmological examination as a screening method to examine retina. In case of any degenerative lesions, the qualification for laser photocoagulation treatment was performed. Furthermore, study group was divided into two subgroups due to presence or absence of the retinal lesions and opthalmological outcomes compared. Follow up examination was performed in every patient from the study group between 3 and 6 months after the delivery. RESULTS: Among 508 eyes, retinal lesions were revealed in 69 women (121 eyes) what constituted for 23.8%. In remaining 185 patients results of the opthalmological examination were normal. Average maternal age was higher in group affected with degenerative lesions (p<0.001). Myopia in women with retinal lesions ranged between -0.25 and -12 dioptries (D), while in 43 cases of degenerative lesions qualified for laser photocoagulation this value ranged between -0.5 and -12.0 D (p=ns). Postpartal follow-up examination did not reveal any abnormalities in this group, as well. CONCLUSION: Degenerative retinal lesions are present in one fourth of pregnant women. Both the severity and type of the lesions are not associated with severity of myopia. Among pregnant patients, retinal lesions occur in patients with more advanced maternal age. opthalmological examination remains an important prophylactic modality in retinal disorders, especially in primary retinal detachment due degenerative disorders.

Gene Therapy for Retinal Degeneration.

Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. To view this Bench to Bedside, open or download the PDF.

Cofactors associated with Sudden Acquired Retinal Degeneration Syndrome: 151 dogs within a reference population.

OBJECTIVE: To determine factors associated with sudden acquired retinal degeneration syndrome (SARDS) diagnosed within one referral population. ANIMALS STUDIED: 151 dogs diagnosed with SARDS. PROCEDURES: Breed, age, sex, and body weight were compared between dogs with electroretinogram-confirmed SARDS and dogs presented to the UC Davis Veterinary Medical Teaching Hospital (UCD-VMTH) from 1991 to 2014. RESULTS: SARDS was diagnosed in 151 dogs, representing 1.3% of dogs presented to the UCD-VMTH for ophthalmic disease. Although dogs of 36 breeds were affected, the Dachshund (n = 31, 21%), Schnauzer (16, 11%), Pug (11, 7%), and Brittany (5, 3%) were significantly overrepresented, and the Labrador Retriever (3, 2%) was significantly underrepresented vs. the reference population (P < 0.001). Median (range) age and body weight of affected vs. reference dogs were 8.9 (3-20) vs. 6.8 (0.1-26) years and 12.4 (2.8-52.7) vs. 22.3 (0.1-60) kg, respectively. Dogs 6-10 years of age and between 10-20 kg in body weight were significantly overrepresented in the SARDS population, while dogs <6 years of age were significantly underrepresented (P < 0.01). Spayed females (59% of affected dogs) were significantly overrepresented compared to the reference population, whereas intact females (1% of affected dogs) were significantly underrepresented. CONCLUSIONS: Consistent with previous studies, smaller, middle-aged, spayed female dogs may be at increased risk of developing SARDS. Unlike previous studies, this is the first study comparing a variety of SARDS-affected breeds to a reference population. Potentially increased risk of SARDS in several breeds, particularly Dachshunds, suggests a familial factor that warrants further investigation using genetic techniques.

Ophthalmic and clinical factors that predict four-year development and worsening of diabetic retinopathy in type 1 diabetes.

AIMS: To investigate the role of ophthalmic imaging markers - namely retinal thickness measures and corneal nerve morphology - in predicting four-year development and worsening of diabetic retinopathy (DR) in type 1 diabetes (T1DM). METHODS: 126 eyes of 126 participants with T1DM were examined at baseline and after four years. Diabetic retinopathy (DR) was graded using the Early Treatment Diabetic Retinopathy Study scale. HbA1c, nephropathy, neuropathy, cardiovascular factors, and retinal thickness using optical coherence tomography (OCT) and corneal nerve fiber length (CNFL) using corneal confocal microscopy at baseline were assessed by univariate and step-wise multiple logistic regression, and their diagnostic capabilities for single and combined measures. RESULTS: Four-year development of DR was 19% (13 of 68 without DR at baseline). Worsening of DR was seen in 43% (25 of 58 with DR at baseline). When adjusted for potential confounders, a lower CNFL (AUC=0.637, p=0.040, 64% sensitivity and 64% specificity at 14.9mm/mm2 cut-off), higher triglycerides (AUC=0.669, p=0.012, 64% sensitivity, 62% specificity at 0.85mmol/L) and an elevated vibration threshold (AUC=0.708, p=0.002, 96% sensitivity, 40% specificity at 3.55Hz) were significant predictors for four-year worsening of DR. CONCLUSIONS: Reduced CNFL, elevated vibration perception threshold and higher triglycerides can predict future worsening of DR.

Sudden acquired retinal degeneration syndrome in western Canada: 93 cases.

This study reviewed clinical data from dogs diagnosed with sudden acquired retinal degeneration syndrome (SARDS) in western Canada. Medical records from the Western College of Veterinary Medicine from 2002 to 2016 showed that 93 cases of SARDS were diagnosed based on presentation for sudden blindness and a bilaterally extinguished electroretinogram. The most common pure breeds were the miniature schnauzer, dachshund, and pug. The mean age at diagnosis was 8.1 years and males and females were equally affected. Most of the dogs were presented with normal non-chromatic, but abnormal chromatic pupillary light reflexes. The incidence of retinal degeneration as detected via ophthalmoscopy increased over time after SARDS diagnosis. Polyuria, polydipsia, polyphagia, weight gain, elevated liver enzyme values, isosthenuria, and proteinuria were common clinical and laboratory findings. Chromatic pupillary light reflex testing may be more valuable than non-chromatic pupillary light testing in detecting pupil response abnormalities in dogs with SARDS, although electroretinography remains the definitive diagnostic test.

Syndrome de la rétine silencieuse dans l'Ouest canadien : 93 cas. Cette étude a examiné les données cliniques provenant de chiens diagnostiqués avec le syndrome de la rétine silencieuse (syndrome de cécité soudaine acquise) dans l'Ouest canadien. Les dossiers médicaux du Western College of Veterinary Medicine de 2002 à 2016 ont montré que 93 cas du syndrome de la rétine silencieuse ont été diagnostiqués en se basant sur la présentation pour une cécité soudaine et un électrorétinogramme bilatéral sans incandescence. Les races les plus communes étaient le Schnauzer miniature, le Dachshund et le Pug. L'âge moyen au diagnostic était de 8,1 ans et les mâles et les femelles étaient également affectés. La plupart des chiens présentaient des réflexes pupillaires normaux à la lumière non chromatique mais des réflexes anormaux à la lumière chromatique. L'incidence de la dégénération rétinienne détectée par l'ophtalmoscopie a augmenté au fil du temps après le diagnostic du syndrome de la rétine silencieuse. La polyurie, la polydipsie, la polyphagie, le gain de poids, des valeurs d'enzymes hépatiques élevées, l'isosthénurie et la protéinurie étaient des résultats cliniques et de laboratoire communs. Le réflexe à la lumière pupillaire chromatique peut être plus utile que le test de la lumière pupillaire non chromatique pour détecter les anomalies de la réponse pupillaire chez les chiens atteints du syndrome de la rétine silencieuse, quoique l'électrorétinographie demeure le test diagnostique définitif.(Traduit par Isabelle Vallières).

The incidence and risk factors for the development of vitreomacular interface abnormality in diabetic macular edema treated with intravitreal injection of anti-VEGF.

PurposeTo report the incidence and associated factors for the development of vitreomacular interface abnormality (VMIA) in patients with diabetic macular edema (DME) who received intravitreal injection (IVI) of anti-VEGF (Bevacizumab and Ranibizumab) treatment.MethodsA retrospective observational study. Patients with DME followed at least 6 months were reviewed. Baseline best-corrected visual acuity (BCVA), central retinal thickness (CRT) and final BCVA, CRT in eyes with and without VMIA were compared. Multiple logistic regression was also used to investigate the risk factors of VMIA formation in patients with DME treated by anti-VEGF.ResultsA total of 201 eyes in 142 patients met the inclusion criteria of the study. VMIA developed in 44 eyes (21.89%) of patients during a mean follow-up period of 40.84 months. The estimated mean incidence of VMIA formation was 6.43% per year. Poor baseline BCVA was found to be a risk factor for VMIA development (P=0.001, odds ratio=5.299, 95% confidence interval: 1.972 to 14.238). There was no difference between eyes with and without VMIA formation in improving BCVA (P=0.557) and lowering the macular edema (eyes without VMIA formation: -107.72±171.91 µm; eyes with VMIA formation: -155.02±212.27 µm, P=0.133).ConclusionsThis study revealed the incidence of VMIA formation in IVI anti-VEGF treated DME eyes was 6.43%. Poor baseline BCVA was found to be a risk factor for VMIA formation. Both eyes with and without VMIA development had favorable response to anti-VEGF treatment.

Effects of Subretinal Gene Transfer at Different Time Points in a Mouse Model of Retinal Degeneration.

Lysophosphatidylcholine acyltransferase 1 (LPCAT1) is necessary for photoreceptors to generate an important lipid component of their membranes. The absence of LPCAT1 results in early and rapid rod and cone degeneration. Retinal degeneration 11 (rd11) mice carry a mutation in the Lpcat1 gene, and are an excellent model of early-onset rapid retinal degeneration (RD). To date, no reports have documented gene therapy administration in the rd11 mouse model at different ages. In this study, the AAV8 (Y733F)-smCBA-Lpcat1 vector was subretinally injected at postnatal day (P) 10, 14, 18, or 22. Four months after injection, immunohistochemistry and analysis of retinal morphology showed that treatment at P10 rescued about 82% of the wild-type retinal thickness. However, the diffusion of the vector and the resulting rescue were limited to an area around the injection site that was only 31% of the total retinal area. Injection at P14 resulted in vector diffusion that covered approximately 84% of the retina, and we found that gene therapy was more effective against RD when exposure to light was limited before and after treatment. We observed long-term preservation of electroretinogram (ERG) responses, and preservation of retinal structure, indicating that early treatment followed by limited light exposure can improve gene therapy effectiveness for the eyes of rd11 mice. Importantly, delayed treatment still partially preserved M-cones, but not S-cones, and M-cones in the rd11 retina appeared to have a longer window of opportunity for effective preservation with gene therapy. These results provide important information regarding the effects of subretinal gene therapy in the mouse model of LPCAT1-deficiency.

Ophthalmologic findings in contact sport disciplines.

BACKGROUND: The aim of the study was to investigate the prevalence and the incidence of ocular complications in contact sport disciplines in a large population of professional and amateur athletes over a period of 3 years. METHODS: We performed a retrospective review of 694 medical records from athletes examinated from 2008 to 2011. The following data were collected during the routine visit for agonistic sports eligibility: medical history, age, weight, years of sport practice, approximate number of matches, head and eyes injuries during and beyond of the match and a through ocular history. All athletes underwent a detailed ophthalmological evaluation. The follow-up of each athlete was carried out during the following routine visit for agonistic sports eligibility. RESULTS: Most common disorders observed were: peripheral retinal degeneration, blepharitis, conjunctival and corneal diseases with a prevalence of 7%, 4%, 7% and 4% respectively. It was observed a positive correlation between peripheral retinal degeneration and age in amateur male boxers. Moreover, we noticed an incidence of 6% of laser therapeutic treatments as a result of retinal holes or degenerations, during the follow-up. CONCLUSIONS: Contact sport disciplines did not result in higher prevalence of severe ocular lesion. Both conjuntival diseases and peripheral retinal degenerations represented the ophthalmologic disorders with the higher prevalence in our sample. In particular, peripheral retinal degeneration is remarkable because of the increased risk of retinal detachment. Dyschromatopsie, even if quite rare, should be considered when analysing the reception of shots, since gloves in most cases are either red or blue.

PERIPHERAL RETINAL DEGENERATIONS AND RHEGMATOGENOUS DETACHMENT IN PRIMARY CONGENITAL GLAUCOMA.

BACKGROUND: To determine the prevalence of peripheral retinal degenerations (PRD) and rhegmatogenous retinal detachment in patients with primary congenital glaucoma (PCG). METHODS: Records of all patients with PCG operated from year 2000 onwards were evaluated to look for the prevalence of rhegmatogenous retinal detachment. Of these, those children who were old enough to cooperate and had sufficient medial clarity were screened with an indirect ophthalmoscopy in a cross-sectional evaluation from 2010 to 2014. Peripheral retina was examined, and prevalence of PRD was estimated in this subset. For statistical purposes, only one eye of each patient was considered in this cross-sectional analysis. RESULTS: Of the 310 eyes (180 patients with PCG) operated from the year 2000 onwards, a rhegmatogenous retinal detachment was noted in 13 eyes (4%). Mean axial length of these eyes was 26.3 ± 3.2 mm (range, 19.8-34.7 mm). Among the eyes screened for PRD (n = 60), prevalence of pathologic PRD (lattices with/without atrophic holes and isolated holes/tears) was 15%. The average follow-up between glaucoma filtering surgery and the date of last examination was 8.55 ± 3.98 years (range, 5-20 years) in this subset. Mean axial length was significantly greater in eyes with pathologic PRD than in those without (28.1 ± 3.3 mm vs. 25.8 ± 2.6 mm; P = 0.01). For axial length ≥ 26 mm, the odds of having a pathologic PRD were 14.4 times more than those with axial length < 26 mm (P < 0.001; 95% confidence interval, 1.7-120.5). CONCLUSION: Prevalence of PRD among eyes with PCG is high. Peripheral retinal screening should be performed in eyes with PCG, especially those with axial lengths ≥ 26 mm.