A seven-year analysis of the role and impact of a free community eye clinic.

BACKGROUND: The Indiana University Student Outreach Clinic (IUSOC) Eye Clinic is a monthly student-run eye clinic that provides free visual screening to the Near East Side community of Indianapolis, IN, USA. Screening includes assessments of visual acuity, intraocular pressure, peripheral visual fields, refraction, and non-mydriatic fundus photography. METHODS: This is a retrospective chart review of 875 patients seen at the IUSOC Eye Clinic from October 2013 to February 2020. Data on demographics, insurance coverage, ocular history, physical examination, suspected diagnosis, referral status, and glasses provided were collected and analyzed. RESULTS: 875 patients were seen at the IUSOC Eye Clinic from October 2013 to February 2020. 39.2% of the patients seen at the clinic reported being uninsured. 61.4% of patients were found to have visual acuity of 20/40 or worse, while 51.3% of patients were found to have a near visual acuity of 20/40 or worse. 20.3% of patients were referred to the local county hospital for further evaluation by an ophthalmologist, 14.4% of patients received free glasses prescriptions, and 27.9% of patients received free reading glasses. Common reasons for referral for further ophthalmology evaluation included glaucoma, decreased visual acuity, and diabetic retinopathy. An estimated value of services provided over the seven years of the clinic was 1271 relative value units. CONCLUSION: The IUSOC Eye Clinic fills an important role in advancing ocular health and preventing irreversible blindness in an underserved Indianapolis community. Additionally, the clinic demonstrates an educational model for involving medical student volunteers.

A review on clotting disorders and retinal hemorrhages: Can they mimic abuse?

BACKGROUND: The characteristic findings of abusive head trauma (AHT) include retinal hemorrhages (RH). RH have many etiologies in childhood, which should be considered in the differential diagnosis of possible child abuse. The relationship between RH and thrombophilia in children is not well established. OBJECTIVE: In this literature review, we sought to assess whether retinal findings in pediatric patients with thrombophilia could mimic those of AHT. METHODS: A literature search was performed to identify all cases of thrombophilia in children less than 18 years old with ocular manifestations. Disorders of thrombophilia including protein C and S deficiency, factor V Leiden (FVL), prothrombin variant, MTHFR mutation, hyperhomocysteinemia, elevated factor VIII, and elevated lipoprotein (a) were considered. All cases of pediatric thrombophilia with retinal examination or intraocular bleeding were included. If provided, descriptions of the RH were reviewed. RESULTS: Our initial search yielded 514 results. Forty-three articles met our inclusion criteria. We identified 3 children with RH within the AHT usual age range (<5 years old), ages 5 weeks and 7 weeks old, in the setting of thrombophilia. One child had ocular findings that could potentially mimic abuse. No other indicators of abuse were present in this case. CONCLUSIONS: Based on previous reports, thrombophilia alone has not been shown to clearly mimic abusive head trauma. In reported cases of thrombophilia with RH, the clinical picture and ophthalmic findings are usually distinct from abuse.

Retinal hemorrhage and bleeding disorders in children: A review.

BACKGROUND: Retinal hemorrhages (RH) are a common manifestation of abusive head trauma (AHT) resulting from acceleration-deceleration injury with or without blunt impact. Evaluation of a child with RH requires careful consideration of these differential diagnoses. The extent to which coagulopathy alone can cause RH would be useful to understand as coagulopathy may accompany AHT. OBJECTIVE: In this systematic review, we sought to identify whether coagulopathies have been reported with RH similar to those of AHT. METHODS: We performed a literature search for ocular manifestations of bleeding disorders in children less than 18 years old. We included clotting factor deficiencies, vitamin K deficiency, platelet function abnormalities, thrombocytopenia, disseminated intravascular coagulation (DIC), and trauma induced coagulopathy (TIC). We included only pediatric reports of intraocular bleeding or documented eye examinations that indicated no hemorrhages. We then re-examined cases for ocular and systemic findings that could potentially mimic abuse. RESULTS: Our initial search yielded 816 results. Sixty-one articles met our inclusion criteria. Of these, there were 32 children within the AHT age range (less than 5 years old) who had RH and concomitant coagulopathy. Only 5 cases might potentially be confused for abuse. Of these, no classic characteristics of RH from abuse such as retinoschisis or retinal folds were found. Systemic features were inconsistent with AHT. CONCLUSIONS: The presence of coagulopathy alone does not rule out the possibility that the child has been abused. Coagulopathy alone has not been reported as an etiology of RH that are consistent with AHT, especially when other findings are present.

Anterior Segment Optical Coherence Tomography in Locating the Insertion of Horizontal Extraocular Muscles After Strabismus Surgery.

PURPOSE: To evaluate the accuracy of anterior segment optical coherence tomography (AS-OCT) for locating horizontal extraocular muscle (EOM) insertion after strabismus surgery. METHODS: The distance from the limbus to the postoperative muscle insertion was measured with calipers intraoperatively and by AS-OCT during the postoperative visit of adults undergoing strabismus surgery. Images were collected by masked technicians. Intraclass correlation coefficients (ICC) were used to evaluate the agreement between measurements. RESULTS: Twenty-eight patients were recruited. Measurements were taken from 31 eyes, including 17 lateral and 14 medial rectus muscles. EOM insertion was successfully identified by AS-OCT for 14 (45%) cases. The ICC between intra-operative and AS-OCT measurement was 0.886 when the distance from the limbus to the insertion of EOM was less than 8 mm and 0.001 when the distance from the limbus was between 8 and 10 mm. EOM insertion was undetectable if distance to the limbus was greater than 10 mm. CONCLUSIONS: AS-OCT can accurately identify post-surgical horizontal muscle insertion if the insertion is less than 8 mm from the limbus. [J Pediatr Ophthalmol Strabismus. 2021;58(1):62-65.].

Rare Presentation of Bilateral Central Retinal Vein Occlusion and Leukemic Retinopathy in a Young Adult Diagnosed with T-cell Acute Lymphoblastic Leukemia.

Simultaneous bilateral central retinal vein occlusion (CRVO) is a rare presentation that warrants consideration of an underlying hyperviscosity state. Increased serum viscosity can lead to the hematologic emergency of leukostasis with resultant vascular obstruction and hypoxic tissue damage. The following case demonstrates the first case of bilateral CRVO in a young adult secondary to acute lymphoblastic leukemia (ALL). A 23-year-old female presented to the emergency department (ED) with two days of worsening bilateral blurry vision and bitemporal headache. Her ocular exam was significant for bilateral intraretinal hemorrhages consistent with CRVO with chest radiograph demonstrating widened mediastinum with perihilar lymphadenopathy and serologic testing revealing ALL with blast crisis. The patient was subsequently admitted to the oncology service for induction chemotherapy. Patients with new headache and bilateral vision changes should prompt a thorough neurological and ophthalmologic exam to assess for underlying systemic pathologies. Concurrent bilateral CRVO is a rare but specific finding for systemic hyperviscosity syndrome, blood dyscrasia, polycythemia, or other serious illness. Early recognition and treatment of the underlying condition can prevent further vision loss and overall morbidity and mortality.

Impact of eyeglasses on academic performance in primary school children.

OBJECTIVE: To assess the impact of eyeglass administration after a vision-screening program on standardized testing scores in school-aged children. DESIGN: Retrospective study of children who participated in a vision-screening program that provided free eyeglasses where indicated. PARTICIPANTS: Students in kindergarten through grade 5 in a large urban school district in North America. METHODS: Children in kindergarten through grade 3 were administered the Developmental Reading Assessment (DRA), and children in grades 3 through 5 were administered the Pennsylvania System of School Assessment (PSSA). Classroom teachers completed eyeglass adherence questionnaires. RESULTS: A total of 4523 children participated in the vision-screening program. Eyeglasses were worn most of the time (>75%) by 67.4% of the children and never or rarely worn (<25%) by 18.6% of children. DRA results were available for 2226 children. When eyeglasses were prescribed and worn, initially high reading performances (DRA level 3) were less likely to decline (odds ratio [OR] = 4.36, p < 0.001). Improvement was not observed for children who initially scored DRA level 1 or 2 (OR = 0.29, p < 0.001 and OR = 1.00, p = 0.986, respectively). PSSA reading results were available for 847 children. When eyeglasses were prescribed and worn, Asian children were more likely to score higher PSSA reading levels (OR = 2.53, p = 0.004). This trend was also observed in black and Hispanic children without reaching statistical significance (OR = 1.70, p = 0.061; OR = 2.67, p = 0.067, respectively). CONCLUSIONS: In some children, wearing eyeglasses was associated with maintenance in standardized reading scores. High adherence to wearing eyeglasses suggests that children perceive a benefit, perhaps beyond that which these standardized test results were able to document.

Optical Coherence Tomography in Knobloch Syndrome.

BACKGROUND AND OBJECTIVE: Knobloch syndrome is a genetic disorder defined by occipital defect, high myopia, and vitreoretinal degeneration. The authors studied retinal changes in patients with Knobloch syndrome using optical coherence tomography (OCT). PATIENTS AND METHODS: The authors report patients with Knobloch syndrome who received OCT testing during their care from 2011 to 2016. Diagnosis was based on high myopia, characteristic fundus, and occipital scalp or skull abnormalities with/without featureless irides and/or ectopia lentis. When available, diagnosis was confirmed by the detection of COL18A1 mutations. RESULTS: The authors studied eight eyes from five patients. Two eyes were excluded due to chronic retinal detachment. OCT findings included epiretinal membrane, peripapillary vitreoretinal traction with retinoschisis, absent or rudimentary foveal pits, mean macular thickness of 113.4 µm, poor lamination, retinal pigment epithelium (RPE) atrophy, photoreceptor depletion, and mean choroidal thickness of 168.5 µm with enlarged choroidal vessels. CONCLUSION: OCT findings in Knobloch syndrome include abnormal vitreoretinal traction, poor foveal differentiation, poor retinal lamination, retinal thinning, RPE attenuation, myopic choroidal thinning, and pachychoroid. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e203-e210.].

Visual Impairment and Ocular Pathology Among the Urban American Homeless.

INTRODUCTION: There are few studies that describe the prevalence of ocular morbidity among people who are homeless in the United States. The goal of this study was to describe rates of visual impairment and ocular pathology of men at a homeless shelter in a major United States city. METHODS: An ophthalmologist lead eye-screening clinic was established at a homeless shelter in Philadelphia, Pennsylvania. Results were obtained prospectively from 2015 to 2017. RESULTS: During the study period, 91 patients were enrolled. Visual impairment, defined as vision worse than 20/40, was identified in 42% and ocular pathology in 57% of those studied. This was higher than the national average and higher than or similar to international studies conducted in homeless shelters. Common findings included cataracts, glaucoma, and past eye trauma. CONCLUSION: This study describes a high rate of eye disease and refractive error in an urban homeless sample in the United States.

Association of Preoperative Disclosure of Resident Roles With Informed Consent for Cataract Surgery in a Teaching Program.

IMPORTANCE: Cataract surgery is the most commonly performed intraocular surgery. Academic centers have mandates to train the next surgeon generation, but resident roles are often hidden in the consent process. OBJECTIVE: To investigate associations of full preoperative disclosure of the resident role with patient consent rates and subjective experience of the consent process. DESIGN, SETTING, AND PARTICIPANTS: Full scripted disclosure of residents' roles in cataract surgery was delivered by the attending surgeon. Qualitative analysis was conducted from recorded interviews of patients postoperatively regarding consent process experience and choice of whether to allow resident participation. Associations were sought regarding demographic characteristics and consent rates. Patients were recruited though a private community office. Surgery was performed at a single hospital where resident training was routinely conducted. The study included systemically well patients older than 18 years with surgical cataract. They had no previous eye surgery, English fluency, and ability to engage in informed consent decision-making and postsurgery interview. Patients were ineligible if they had monocular cataracts, required additional simultaneous procedures, had history of ocular trauma, or had cataracts that were surgically technically challenging beyond the usual resident skill level. INTERVENTIONS: Eligible patients received an informed consent conversation by the attending physician in accordance with a script describing projected resident involvement in their cataract surgery. Postoperatively, patients were interviewed and responses were analyzed with a quantitative and thematic qualitative approach. MAIN OUTCOMES AND MEASURES: Consent rates to resident participation and qualitative experience of full disclosure process. RESULTS: Ninety-six patients participated. Participants were between ages 50 and 88 years, 53 were men (55.2%), and 75 were white (85.2%). A total of 54 of 96 participants (56.3%; 95% CI, 45.7%-66.4%) agreed to resident involvement. There were no associations between baseline characteristics and consent to resident involvement identified with any confidence, including race/ethnicity (60% [45 of 75] in white patients vs 30.8% [4 of 13] in nonwhite patients; difference, 29.2%; 95% CI, -0.7% to 57.3%; Fisher exact P = .07). Thematically, those who agreed to resident involvement listed trust in the attending surgeon, contributing to education, and supervision as contributing factors. Patients who declined stated fear and perceived risk as reasons. CONCLUSIONS AND RELEVANCE: Our results suggest 45.7% to 66.4% of community private practice patients would consent to resident surgery. Consent rates were not associated with demographic factors. Because residents are less often offered the opportunity to do surgery on private practice patients vs academic center patients, this may represent a resource for resident education.

Central Corneal Thickness in Childhood Cataract.

PURPOSE: We explored elevated central corneal thickness (CCT) in children with cataracts as possibly reflecting preexisting corneal malformation related to specific cataract morphology. METHODS: All children consecutively seen during the study periods who had cataracts and corneal pachymetry as part of their routine care were enrolled at academic centers in large cities of Canada and the United States. Study data collected included age, sex, CCT, and cataract morphology. Differences among cataract morphology groups with respect to mean CCT measurements were evaluated and compared with a historical control thickness of 558 µm. RESULTS: A total of 96 children were enrolled in this study. The average subject age was 5.1 years, and 55 children (57%) were female. The mean CCT value for all subjects was 566.1 µm. There was little evidence to conclude that the cataract morphology groups differed from each other (P = 0.65) or from controls with respect to CCT. CONCLUSIONS: In children, CCT is likely independent of cataract morphology. This implies that factors other than preoperative malformation are more likely related to elevated CCT observed in children with aphakia and pseudophakia.

Ocular hypotony: A comprehensive review.

Ocular hypotony is an infrequent, yet potentially vision-threatening, entity. The list of differential causes is extensive, involving any condition that may compromise aqueous humor dynamics or the integrity of the globe and sometimes following medical treatments or procedures. Depending on the cause and the clinical impact, treatment options aim to correct the underlying pathology and to reestablish anatomical integrity, as well as visual function. We review the pathophysiology, clinical presentation, different causes, and associated therapeutic options of ocular hypotony.

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

BACKGROUND: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS. METHODS: The questionnaire was collected from 277 participants (age: two months to 66 years) with SWS brain involvement at seven US sites. RESULTS: Bilateral brain involvement was associated with both learning disorder and intellectual disability, whereas port-wine birthmark extent was associated with epilepsy and an increased likelihood of glaucoma surgery. Subjects with family history of vascular birthmarks were also more likely to report symptomatic strokes, and family history of seizures was associated with earlier seizure onset. Learning disorder, intellectual disability, strokelike episodes, symptomatic stroke, hemiparesis, visual field deficit, and brain surgery were all significantly associated with earlier onset of seizures. CONCLUSION: The extent of brain and skin involvement in SWS, as well as the age of seizure onset, affect prognosis. Other genetic factors, particularly variants involved in vascular development and epilepsy, may also contribute to neurological prognosis, and further study is needed.

Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.

We report the case of a 12-year-old girl diagnosed with Nicolaides-Baraitser syndrome with novel ocular features. Diagnosis was based on clinical features, including developmental delay, sparse hair, and craniofacial features along with de novo mutation in SMARCA2. Eye findings included bilateral glaucoma, cataracts, and degenerative vitreoretinopathy. Given the absence of an associated recognizable disorder and the low prevalence of these ocular findings in the general population, we suggest that these ocular features may not be chance association.

Inconsistent diagnostic criteria for convergence insufficiency.

BACKGROUND: Convergence insufficiency (CI) is a common entity but seems to be an ill-defined diagnosis that incorporates many near-vision symptoms. The current literature often varies in its criteria for diagnosis. Without a clear definition and standardization of the clinical examination, there is the potential for misdiagnosis and/or the inclusion of other diagnoses as CI. The purpose of this study was to assess the uniformity of diagnostic criteria in a well-defined practice environment. METHODS: The medical records of individuals diagnosed with CI between June 2007 and November 2014 who were patients of 6 fellowship-trained strabismologists in private practices and at Wills Eye Hospital clinics were reviewed retrospectively. Exclusion criteria included any previous treatments for CI, prior strabismus surgery, or other causes for strabismus, including cranial nerve palsies. The following data were collected: age, sex, race, age at diagnosis, past medical and family history, relevant symptoms, visual acuity, near point of convergence (NPC), strabismus measurements, and fusional amplitudes at distance with base-out and base-in prisms. RESULTS: A total of 387 patients fit our inclusion criteria and were analyzed in our study. There was no uniformity across clinicians in the clinical evaluation and diagnosis of patients with CI. The amplitude of the NPC was highly variable, and most clinicians did not assess the quality of the convergence movement or perform convergence fusional amplitude testing in making the diagnosis of CI. CONCLUSIONS: Our review has demonstrated the range of criteria within one group of practitioners to diagnose CI. This may reflect our current understanding and the need for an evidence-based definition of the disease and its diagnosis.

PATHOLOGY OF PERIMACULAR FOLDS DUE TO VITREORETINAL TRACTION IN ABUSIVE HEAD TRAUMA.

PURPOSE: To demonstrate vitreoretinal traction as a mechanism for perimacular folds in abusive head trauma. METHODS: We performed gross and histopathologic examination of eyes of children with suspected abusive head trauma and identified those with typical perimacular folds. Information was collected regarding the incident that led to the child's death and systemic manifestations noted at autopsy. Eyes were prepared in a fashion that allowed for demonstration of the vitreoretinal interface. RESULTS: Ten eyes of five patients (2-13 months) were examined. All patients had systemic manifestations of abusive trauma including intracranial injury. All cases provided evidence of vitreoretinal traction producing perimacular folds. Condensed vitreous was seen attached to the apices of the retinal folds, and the detached internal limiting membrane comprising the inner surfaces of the schisis cavity. Four cases showed severe bilateral multilayered symmetric retinal hemorrhages extending to the ora serrata. All cases showed optic nerve sheath subdural hemorrhage and subarachnoid hemorrhage. Orbital hemorrhage was unilateral in two cases and bilateral in three cases. Four cases showed orbital fat hemorrhage. One case showed extraocular muscle sheath and cranial nerve sheath hemorrhage. Two cases showed juxtapapillary intrascleral hemorrhage. CONCLUSION: Vitreoretinal traction is the likely mechanism of perimacular folds in abusive head trauma.

Traumatic macular retinoschisis in infants and children.

PURPOSE: To provide detailed description of pediatric traumatic retinoschisis. METHODS: The medical records of children with either abusive head trauma and traumatic macular retinoschisis seen at a single center from 1993 to 2006 were reviewed retrospectively. Clinical details were extracted from the record and photographic documentation. Evaluation regarding abuse excluded ophthalmology findings to avoid circular reasoning. RESULTS: Of 134 patients with suspected abusive head trauma, 31 had retinoschisis. Mean age was 9 months. Of the 31, 22 (71%) offered a history of injury, and 9 (29%) were found unresponsive without history of injury; 6 were reportedly shaken. All patients had seizures, vomiting, and/or altered responsiveness. All had subdural hemorrhage, with cerebral edema in 17 (55%). In 10 (32%), there were findings of blunt force head injuries; in 4 of these there was no impact history. Retinal hemorrhages were present in all cases. Agreement between sidedness of retinoschisis and subdural hemorrhage was poor. Eleven patients had retinal folds, 3 of which had a hemorrhagic edge to the schisis. Nine patients had extracranial manifestations of abuse. Multidisciplinary team adjudications were as follows: of the 31 cases, 18 were suspicious for abuse, 11 were indeterminate, and 2 were possibly accounted for by accidental severe crush injury. Three children died, and 11 suffered neurological sequelae. CONCLUSIONS: Traumatic retinoschisis in children is highly associated with subdural hemorrhage, neurologic symptoms, and poor outcomes. Even with a conservative approach to opinion formulation, traumatic retinoschisis was associated with likely abuse.

New classification system for pediatric glaucoma: implications for clinical care and a research registry.

PURPOSE OF REVIEW: The Childhood Glaucoma Research Network (CGRN) has created a new classification system for childhood glaucoma that has become the first International Consensus Classification. The purpose of this review is to present this classification system and share its use to date. RECENT FINDINGS: The diagnoses of the classification system include glaucoma and glaucoma suspect. The primary glaucomas include: primary congenital glaucoma and juvenile open-angle glaucoma. The secondary glaucomas include: glaucoma following cataract surgery, glaucoma associated with nonacquired systemic disease or syndrome, glaucoma associated with nonacquired ocular anomalies, and glaucoma associated with acquired conditions. This system reached consensus agreement at the Ninth World Glaucoma Association Consensus, which has been adopted by the American Board of Ophthalmology, and has been implemented in outcomes research, incidence studies, and review articles. The new Robison D. Harley, MD CGRN International Pediatric Glaucoma Registry uses this classification system as a shared language, allowing international clinicians and researchers to collaborate and make large-scale investigations of this otherwise rare disease possible. SUMMARY: The diagnoses in this system are assigned by following a logical and systematically approachable path. The ability to easily adopt and implement the system lends itself to international research.

Depression and quality of life in a community-based glaucoma-screening project.

OBJECTIVE: To identify the prevalence and risk factors of depression among individuals given a glaucoma-related diagnosis at a screening program. DESIGN: Cross-sectional community-based in a university hospital. PARTICIPANTS: Volunteers from a community glaucoma-screening program. METHODS: After collecting sociodemographic information, participants were administered the Geriatric Depression Scale-15 (GDS-15) and the National Eye Institute Visual Function Questionnaire-25 (NEI-VFQ-25). RESULTS: Participants were predominantly African American (73.5%), older than 65 years (65.7%), single (75.4%), and female (66.8%). Among 268 participants, 89 were diagnosed with glaucoma and 179 as glaucoma suspects. The frequency of depression among the glaucoma and glaucoma suspect participants was 18% and 16.2%, respectively. The mean GDS-15 score was 2.4 ± 2.7 with no difference between glaucoma and glaucoma suspect groups, p = 0.654. The mean VFQ-25 score was 78.6 ± 15.9 and was lower in glaucoma (74.7 ± 19.7) than glaucoma suspect participants (80.4 ± 13.6), p = 0.003. Risk factors for depression included difficulties with paying expenses (p = 0.017), Asian race (p < 0.001), and poorer scores on the VFQ-25 subscales of "General Health" (p < 0.001), "Distance Activities" (p = 0.024), and "Dependency" (p = 0.001). CONCLUSIONS: Prevalence of depression in those diagnosed with glaucoma or glaucoma suspect was higher than previous estimates of the general population. Glaucoma-screening programs might benefit from including depression-screening protocols along with referral services or low-cost treatments of depression.

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.

BACKGROUND/AIMS: Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular manifestations in Heimler syndrome due to mutations in PEX6. MATERIALS AND METHODS: Medical records were reviewed to identify patient demographics, ophthalmic and systemic findings, and results of diagnostic testing including whole genome sequencing. RESULTS: Patient 1 is 12-year-old boy with a novel mutation c.275T>G (p.Val92Gly) and known mutation c.1802G>A (p.Arg601Gln) in PEX6. Patient 2 is a 7-year-old girl with the same known c.1802G>A (p.Arg601Gln) mutation and another novel missense mutation c.296G>T (p.Arg99Leu). Both patients exhibited a pigmentary retinopathy. Visual acuity in patient 1 was 20/80 and 20/25 following treatment of intraretinal cystoid spaces with carbonic anhydrase inhibitors, while patient 2 had visual acuity of 20/20 in both eyes without intraretinal cysts. Fundus autofluorescence showed a multitude of hyperfluorescent deposits in the paramacular area of both eyes. OCTs revealed significant depletion of photoreceptors in both patients and macular intraretinal cystoid spaces in one patient. Full field electroretinograms showed normal or abnormal photopic but normal scotopic responses. Multifocal electroretinograms were abnormal. CONCLUSIONS: Heimler syndrome due to biallelic PEX6 mutations demonstrates a macular dystrophy with characteristic fundus autofluorescence and may be complicated by intraretinal cystoid spaces.