Ocular Findings Research Articles

Clinical implementation of ocular health findings in different phases of the menstruation cycle - A systematic review

Menstrual cycles are essential to women's health and play a significant role in their daily lives. While the hormonal changes during the menstrual cycle are recognized, research has focused on investigating their specific effects on ocular and visual characteristics. This review aims to comprehensively explore the potential alterations in ocular parameters and alterations to visual performance throughout the cycle of menstruation. Following a search in various research repositories, including PubMed, Google Scholar, Ovid, and EMBASE, both original and review publications were reviewed, and information was utilized in this study. Studies with changes in Ocular parameters during all three menstrual cycle phases were noted. The reported studies documented only normally menstruating women. This study provided valuable knowledge and awareness of the risk factors for menstrual cycle-related ocular symptoms and changes and the impact of these conditions on women's life. This information can be used to develop evidence-based guidelines for managing menstrual cycle-related ocular problems and their significance in clinical practice.

Whole genome sequencing in families with oligodontia.

Tooth agenesis (TA) is among the most common malformations in humans. Although several causative mutations have been described, the genetic cause often remains elusive. Here, we test whether whole genome sequencing (WGS) could bridge this diagnostic gap. In four families with TA, we assessed the dental phenotype using the Tooth Agenesis Code after intraoral examination and radiographic and photographic documentation. We performed WGS of index patients and subsequent segregation analysis. We identified two variants of uncertain significance (a potential splice variant in PTH1R, and a 2.1 kb deletion abrogating a non-coding element in FGF7) and three pathogenic variants: a novel frameshift in the final exon of PITX2, a novel deletion in PAX9, and a known nonsense variant in WNT10A. Notably, the FGF7 variant was found in the patient, also featuring the WNT10A variant. While mutations in PITX2 are known to cause Axenfeld-Rieger syndrome 1 (ARS1) predominantly featuring ocular findings, accompanied by dental malformations, we found the PITX2 frameshift in a family with predominantly dental and varying ocular findings. Severe TA predicts a genetic cause identifiable by WGS. Final exon PITX2 frameshifts can cause a predominantly dental form of ARS1.

Presumed Onchocerciasis Chorioretinitis Spilling over into North America, Europe and Middle East.

Newer generation ophthalmologists practicing in the developed world are not very familiar with some tropical ocular diseases due to the absence of reports in the ophthalmic literature over the past thirty years. Because of world globalization or due to influx of immigrants from sub-Saharan Africa, exotic retinal diseases are being encountered more often in ophthalmology clinics. A multicenter case series of chorioretinitis or optic neuritis with obscure etiology that used serial multimodal imaging. Four cases qualified with the diagnosis of presumed ocular onchocerciasis based on their residence near fast rivers in endemic areas, multimodal imaging, long term follow-up showing progressive disease and negative workup for other diseases. Characteristic findings include peripapillary choroiditis with optic neuritis or atrophy, subretinal tracts of the microfilaria, progressive RPE atrophy around heavily pigmented multifocal chorioretinal lesions of varying shapes, subretinal white or crystalline dots, and response to ivermectin. Typical skin findings are often absent in such patients with chorioretinitis rendering the diagnosis more challenging. Familiarity with the myriad ocular findings of onchocerciasis, and a high-degree of suspicion in subjects residing in endemic areas can help in the correct diagnosis and implementation of appropriate therapy. Onchocercal chorioretinitis is a slow, insidious, progressive, and prolonged polymorphous disease.

Latent Convergent Strabismus Clinical Features and Management in Sudanese Patients

Purpose: To describe the clinical features and management of latent convergent strabismus among Sudanese patients. Study Design: Descriptive observational study. Place and Duration of Study: Makkah Eye Complex, Khartoum, Sudan, from December 2018 to August 2020. Methods: The study included 137 patients, diagnosed with latent convergent strabismus (esophoria). Demographic data and ocular examination findings including visual acuity, refractive error, and degree of esophoria was collected. Esophoria was assessed by prism cover test (PCT) at near and distance. Results: Esophoria was more common among females (n = 107, 78.1%) and in age group 15 to 25 years. Headache was the most common complaint (n = 64, 46.7%). Most of the patients (n = 114, 83.2%) had 1 to 5 ∆ of esophoria with a mean of 4.17 ± 2.99∆. Majority of the patients (n = 132, 96.3%) had normal near point of convergence (NPC) 6.98 ± 3.10 cm. Positive fusional vergence (PFV) was high at 24.06 ± 9.01∆, whereas negative fusional vergence (NFV) was low at 5.0 ± 0.21∆D, P = 0.001. Majority of the patients (76.6%) responded well to the refractive correction, 11.7% patients to vision therapy and remaining 11.7% to both refractive correction and vision therapy. Correlation coefficients revealed that there was a positive correlation between, refraction, NPC, and PFV (P ˃ 0.05). Conclusion: Sophoria was more common among females and young adults. Most of the esophoric patients had uncorrected hyperopia, good PFV and relatively poor NFV amplitude. Early detection and management of young esophoric patients is essential to improve vision and binocular functions.

Ocular manifestations in Koolen–de Vries syndrome: an international study

ObjectivesKoolen–de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited. This study aims to investigate the already known ocular malformations and their frequency while uncovering novel ocular associations. MethodsThis was an international cross-sectional study. An anonymous questionnaire was sent to 237 KdVS patients registered in the GenIDA database. The questionnaire inquired about demographic data, ocular symptoms, findings reported by ophthalmologists, and ophthalmologic surgical interventions. The main outcome measures included ocular findings and surgical interventions. ResultsSixty-seven respondents worldwide completed the questionnaire, most (n = 53; 79%) under 18 years of age. Ophthalmologic abnormalities, noted in 79% of patients, included refractive errors (n = 35; 52.2%), strabismus (n = 23; 34.3%), amblyopia (n = 13; 19.5%), and eyelid ptosis (n = 9; 13.4%). Lacrimal disorders were present (n = 6; 9.0%), as were retinal findings (n = 7; 10.4%), including retinal hyperpigmentation or hypopigmentation (n = 4; 7.5%), Sjögren's pigment epithelial reticular dystrophy (n = 1; 1.5%), and macular chorioretinal coloboma (n = 1; 1.5%). Other manifestations included ocular surface disorders (n = 5; 7.5%), cataracts (n = 3; 4.5%), Brown syndrome (n = 1; 1.5%), glaucoma (n = 1; 1.5%), cerebral visual impairment (n = 1; 1.5%), and optic atrophy (n = 1; 1.5%). Fourteen patients (20.8%) had undergone surgical interventions. ConclusionsKdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4–6 months of age for diagnosed newborns.

Neurodevelopmental delay, corneal clouding, hypomyelinating leukoencephalopathy: think mucolipidosis IV

Mucolipidosis type IV (MLIV) is an ultra-rare autosomal recessive lysosomal disorder characterized by typical neurological (early-onset developmental delay, spasticity), ocular (corneal clouding, retinopathy), and characteristic MRI findings (hypomyelinating leukoencephalopathy, thin corpus callosum, cerebellar atrophy). Although MLIV is predominantly reported in patients in the Ashkenazi Jewish community, it is a pan-ethnic disorder. The authors report on two siblings of Armenian origin with global neurodevelopmental delay, ophthalmological abnormalities and characteristic MRI features suggesting MLIV. Whole-Exome Sequencing confirmed two pathogenic variants in the MCOLN1 gene. This constellation of clinical and neuroimaging findings has been confirmed to provide a basis for the diagnosis of MLIV, and it is suggested that a focused diagnostic work-up should be considered for unexplained neurodevelopmental disorders.

Instances of ocular findings in transgender patients undergoing hormonal therapy

PurposeTo describe the ophthalmological manifestations in transgender patients on gender-affirming hormone therapy. MethodsA retrospective chart review study was conducted. Female-to-male (FTM) and male-to-female (MTF) transgenders on gender-affirming hormone therapy evaluated at a single center were included. Candidates were collected using a phrase-identifying search tool within the electronic medical record system. Descriptive analyses were conducted to report the demographics, hormonal therapies, clinical findings, and visual outcomes. ResultsA total of 17 patients were included, seven were FTM, and ten were MTF transgenders. The median age was 26.0 years (range; 20.0–30.0) in the FTM group and 35.0 years (range; 23.0–67.0) in the MTF group. Testosterone therapy in FTM patients comprised 30–60 mg of intramuscular injections weekly or 50 mg of transdermal gel daily. MTF patients used mainly 2–4 mg of estradiol and 100–300 mg of spironolactone tablets daily. A total of 27 eyes were affected, 12 in FTM and 15 in MTF patients. The median visual acuity was 20/25 in FTM (range; 20/20-20/60) and 20/25 in MTF (range; 20/20-20/400). The most common diagnoses in FTM patients were neurologic (71.4 %), particularly idiopathic intracranial hypertension, while MTF transgenders presented mainly with chorioretinal diseases (40.0 %). Compliance with medical recommendations and follow-up appointments was seen in 71.4 % of FTM and 50.0 % of MTF patients. At the last visit, the median visual acuity was 20/50 (range; 20/20-20/70) in FTM and 20/25 (range; 20/20-20/70) in MTF patients. Conclusions and importanceTransgenders presented a variety of ocular findings. A cause-and-effect association cannot be stated, yet eye specialists must be cognizant of these findings to provide appropriate treatment.

Ophthalmic diseases in meningitis within the pediatric population

ObjectifLa méningite peut se solder par des complications ophtalmiques chez les enfants. Or, ces retombées visuelles ont été peu étudiées dans les pays industrialisés. La présente étude a pour objectif de mettre au jour les séquelles oculaires et neuro-ophtalmiques éventuelles de la méningite au sein d'une population pédiatrique dans un hôpital de soins tertiaires pour enfants. NatureOn a réalisé un examen rétrospectif des dossiers de tous les enfants qui ont reçu un diagnostic de méningite entre 2006 et 2015 à l'Hôpital de Montréal pour enfants. L’étude a reçu l'approbation du comité d’éthique du Centre universitaire de santé McGill et respectait les principes de la Déclaration d'Helsinki. MéthodesAprès extraction des dossiers médicaux des enfants qui ont eu une méningite, on a retenu les patients qui ont fait l'objet d'une consultation en ophtalmologie. Les données démographiques et les antécédents médicaux pertinents, de même que les résultats des examens oculaires et de l'imagerie, ont été notés. La proportion d'anomalies oculaires a été calculée et analysée. RésultatsAinsi, 72 des 861 patients (8,4 %) qui ont eu une méningite ont fait l'objet d'une consultation en ophtalmologie, dont 46 qui répondaient aux critères d'inclusion; de ce nombre, 31 patients (67,4 %) présentaient des anomalies oculaires, qui touchaient le plus fréquemment l'acuité visuelle (8 patients sur 32), les mouvements extraoculaires et l'alignement (14 patients sur 28), le nerf optique (10 patients sur 41), la réactivité pupillaire (4 patients sur 35) et la cellulite périorbitaire/orbitaire (4 patients sur 46). Les enfants plus âgés étaient plus susceptibles de présenter des anomalies ophtalmologiques. ConclusionNotre étude met en relief les anomalies oculaires découvertes chez des enfants qui ont eu la méningite et qui ont été soignés dans un centre de soins tertiaires dans un pays à indice de développement sociodémographique élevé. Les complications risquent de perdurer. Les ophtalmologistes traitants doivent être bien au fait du risque d'anomalies oculaires associées à la méningite, ce qui nous amène à recommander que les professionnels de la santé soient mieux sensibilisés à cette éventualité.

Characterisation of cataracts and other ophthalmic findings in various species of captive penguins.

The identification of ophthalmic diseases that affect vision and/or cause discomfort should be a priority in captive penguins to improve their overall health and quality of life. A routine ophthalmological examination was performed on 80 clinically normal penguins (160 eyes), and any lesions observed were recorded. Ocular lesions were frequent (56% of penguins), with cataracts being the most common (48.8% of penguins). Cortical cataracts (63% of eyes) and posterior subcapsular cataracts (27.4%) were the most commonly occurring. All maturation stages were found; incipient cataracts (52.1% of eyes with cataracts) were predominant, while Morgagnian cataracts (8.2%) were the least frequent. A correlation existed between lenticular changes and increasing age. Uveitis was present in 43.8% of eyes with cataracts, and ectropion uveae was the predominant clinical sign. Other ocular findings included blepharitis (3.8% of all eyes), corneal leukoma (5.6%) and posterior lens subluxation (7.5%). The small number of birds of some species prevented the comparison of ophthalmic findings between species. This study corroborates the high prevalence of ocular lesions in captive penguins. Cataracts were frequent and age related. Most cataracts were cortical, and the predominant maturation stage was incipient. Lens-induced uveitis was a common finding. Lowered intraocular pressure was related to cataract formation.

213. Do Patients with Candidemia Need an Ophthalmology Exam?

Abstract Background Candidemia can lead to hematogenous seeding of the eye resulting in chorioretinitis or endophthalmitis. IDSA recommends a screening dilated retinal examination for patients with candidemia, whilst American Academy of Ophthalmology (AAO) recently declared this a low value practice. Using an inter-disciplinary team, we evaluated ophthalmology examination for patients with candidemia. Methods We performed a retrospective study of patients with candidemia at an academic medical center and affiliated hospitals between January 2011 – June 2022. Electronic medical records were reviewed for demographics and baseline characteristics. The primary outcome was chorioretinitis and/or endophthalmitis. The study was adjudicated by independent review from infectious disease and ophthalmology providers. Results We included 308 patients with a blood culture positive for candida species. 149 patients (48%) received an ophthalmologic exam, of which 55% (82) were asymptomatic. Abnormal ocular findings concerning for presumed ocular candida complications were found in 12 patients (8%, 12/149), of which 4 had alternative diagnoses to candida choriorentinits or endophthalmitis. All of the remaining 8 patients (5%, 8/149) had presumed candida chorioretinitis with no cases of candida endophthalmitis and this led to a change in management in 88% (7/8) of patients (Table 1). Of the 8 patients, 3 patients were asymptomatic, making the number needed to screen 28 to detect presumed candida chorioretinitis amongst asymptomatic patients. We did not identify statistically significant risk factors for development of abnormal ocular findings (Table 2). Table 1 Clinical diagnosis and management of patients with candida chorioretinitis and/or endophthalmitis Table 2 Clinical features of patients with and without ocular candidiasis Conclusion IDSA and AAO recommend ophthalmologic examination in symptomatic and intubated patients with candidemia. We found a 5% incidence of presumed ocular candidiasis in patients with candidemia. Given the limitations of our study, we could not conclude for or against screening in asymptomatic patients as this did not lead to a significant change in patient outcomes. Inter-disciplinary decisions involving ophthalmology and infectious diseases can help inform best practices for screening in asymptomatic patients. Future studies should evaluate ocular photography and teleophthalmology as screening strategies. Disclosures All Authors: No reported disclosures

Central retinal artery occlusion following pediatric blunt ocular trauma.

To analyze the clinical profile, presentation, possible pathophysiology, and outcomes of central retinal artery occlusion (CRAO) following blunt trauma in pediatric subjects. The medical charts of subjects aged 18 years or less with a diagnosis of CRAO following blunt ocular trauma were analyzed retrospectively for demography, details of the trauma, ocular findings, additional imaging reports if any, and final outcome. A Medline search was done (key words like central retinal artery occlusion, blunt trauma, children, pediatric subjects, and adolescents) to gather information available in the literature on the subject. A total of 11 patients (11 eyes), mean age of 14.3 ± 3.4 years, and 100% male preponderance, with an average time duration from trauma to presentation to the hospital of 8.1 days were included. Visual acuity ranged from no light perception (four eyes) to finger count at a 1 m distance. Intraocular pressure was raised in three patients, of which two were suffering from sickle cell disease. In two eyes, the CRAO coexisted with optic nerve avulsion and the cilioretinal artery was spared. Disk pallor was seen in six eyes as early as 12 days from the trauma. None of the cases revealed any bony fracture in the CT scan. CRAO was observed to be an important primary or contributory cause of visual loss in children following blunt trauma, reflex vasospasm being the most common etiology. Early onset disk pallor could suggest an underlying vascular compromise of both retinal and optic disk circulation in addition to direct disk damage.

The Far Nasal Part of the Visual Field – Part I

Aims: The aim of the study was to determine the limits of the far nasal part of the visual field. Material and Methods: Visual field examination was performed in 15 healthy subjects (30 eyes), specifically nine women aged 20–43 years and six men aged 22–35 years. All eyes were found to have physiological ocular findings and visual acuity of 1.0 with correction less than or equal to 3 diopters. The visual field was examined with a Medmont M700 instrument by shifting the fixation point 40 degrees temporally and simultaneously turning the head nasally, with a spatial accommodation program. A total of 89 examination points were included using flicker stimuli. Results: The far nasal limit of the visual field reached 100° in 13.3% of eyes, 105° in 20% of eyes and up to 110° in 66.7% of eyes. Conclusion: The limit of the far nasal part of the field of vision reached 100–110 degrees (when nose shielding was eliminated).

Ophthalmic manifestations of Czech dysplasia.

Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) COL2A1 variant. Affected individuals usually present with skeletal abnormalities such as metatarsal hypoplasia of the third and fourth toes and early-onset arthropathy, as well as hearing loss. To date, no ophthalmic findings have been reported in patients with Czech dysplasia even though COL2A1 has been implicated in other ocular conditions such as type 1 Stickler syndrome. For the first time, we report the ocular findings in four families with Czech dysplasia, including type 1 vitreous anomaly, hypoplastic vitreous, retinal tears, and significant refractive error. These novel ocular findings expand the phenotype associated with Czech dysplasia and may aid clinicians as an additional diagnostic feature. Patients with congenital abnormalities of vitreous gel architecture have an increased risk of retinal detachment, and as such, patients may benefit from prophylaxis. Considering that many of the patients did not report any ocular symptoms, vitreous phenotyping is of key importance in identifying the need for counseling with regard to prophylaxis.

Disentangling the neurological basis of chronic ocular pain using clinical, self-report, and brain imaging data: use of K-means clustering to explore patient phenotypes.

The factors that mediate the expression of ocular pain and the mechanisms that promote chronic ocular pain symptoms are poorly understood. Central nervous system involvement has been postulated based on observations of pain out of proportion to nociceptive stimuli in some individuals. This investigation focused on understanding functional connectivity between brain regions implicated in chronic pain in persons reporting ocular pain symptoms. We recruited a total of 53 persons divided into two cohorts: persons who reported no ocular pain, and persons who reported chronic ocular pain, irrespective of ocular surface findings. We performed a resting state fMRI investigation that was focused on subcortical brain structures including the trigeminal nucleus and performed a brief battery of ophthalmological examinations. Persons in the pain cohort reported higher levels of pain symptoms relating to neuropathic pain and ocular surface disease, as well as more abnormal tear metrics (stability and tear production). Functional connectivity analysis between groups evinced multiple connections exemplifying both increases and decreases in connectivity including regions such as the trigeminal nucleus, amygdala, and sub-regions of the thalamus. Exploratory analysis of the pain cohort integrating clinical and brain function metrics highlighted subpopulations that showed unique phenotypes providing insight into pain mechanisms. Study findings support centralized involvement in those reporting ocular-based pain and allude to mechanisms through which pain treatment services may be directed in future research.

Screening saves sight: An unusual case of type-1 neurofibromatosis

Neurofibromatosis (NF), described by von Recklinghausen in 1882, consists of at least two distinct disorders: NF1 (von Recklinghausen's or peripheral neurofibromatosis) and NF2, formerly known as 'central neurofibromatosis." The prevalence of NF is approximately 1 in 4,000, and of NF2, 1 in 50,000. Neurofibromatosis type 1 is a multisystemic neurocutaneous disorder with an autosomal dominant hereditary pattern. Ocular manifestations include plexiform neurofibroma of eyelid, Lisch nodules in iris, optic nerve glioma, glaucoma, sphenoid wing dysplasia. Retinal and choroidal involvement are encountered less frequently. Unusual ocular findings include multiple choroidal nevi, combined hamartoma, choroidal Schwannoma, choroidal melanoma and vaso proliferative retinal tumors.Here we report a case of an 18 year old girl diagnosed with neurofibromatosis type 1 who on routine ocular examination was found to have high myopia in both eyes and on fundus examination had a macula ‘on’ inferior retinal detachment with retinal hole in right eye. Inferior retinal detachment is rarely reported in neurofibromatosis type 1. This case emphasizes the importance of conducting ocular examination even in asymptomatic patients with neurofibromatosis, so that early detection and treatment can prevent vision loss secondary to retinal detachment.

Ocular findings in vitiligo and recommendations for dermatologists

AbstractSince extracutaneous melanocytes in the eye may also be affected in vitiligo, a systematic review was conducted to explore the ocular manifestations of vitiligo. Studies point to a higher risk of ocular findings in periorbital vitiligo. Dry eye disease is the most reported ocular abnormality in vitiligo. Additionally, several small studies have found potential links to uveitis and glaucoma. Various other chorioretinal pigmentary changes are also reported, but without accompanying functional consequences or changes in vision. Although there is a need for larger studies to further elucidate these associations, dermatologists should be aware of potential ocular comorbidities in vitiligo and refer to ophthalmology accordingly.

Ophthalmic Artery Occlusion as the Presenting Sign of Acquired Immunodeficiency Syndrome.

Describe a case of severe occlusive vasculitis that led to a diagnosis of acquired immunodeficiency syndrome (AIDS) in a previously healthy middle-aged man. Multimodal imaging including widefield fundus photography, spectral domain optical coherence tomography (OCT), and widefield fluorescein angiography (FA). A healthy 46-year-old man presented with sudden onset vision loss in his left eye with an afferent pupillary defect. His exam revealed signs of retinal vascular disease in both eyes, with an ophthalmic artery occlusion in his affected left eye and a hemiretinal vein occlusion in his asymptomatic right eye. An extensive medical workup was significant for human immunodeficiency virus (HIV) positivity; he was ultimately diagnosed with AIDS and ocular findings were attributed to an associated occlusive vasculitis. He developed anterior segment neovascularization in the left eye for which he received intravitreal bevacizumab and panretinal photocoagulation. He ultimately required cyclophotocoagulation in the left eye for poorly controlled intraocular pressure in the setting of neovascular glaucoma. Although HIV is most classically associated with a retinal microangiopathy, testing should be considered in cases of occlusive retinal vasculitis as it is a rare cause of such findings.

Ocular features associated with mutations in ATOH7 gene overlap those with familial exudative vitreoretinopathy.

To report the ocular findings in 3 patients with a mutation in the ATOH7 gene. The clinical findings were collected from the medical records including those for magnetic resonance imaging (MRI). Genetic testing of the ATOH7 gene was performed. Three patients of two families who had poor vision since infancy were studied. The 3 patients had varying degrees of intraocular vascular proliferation associated with advanced retinal detachments as falciform retinal folds or total retinal detachments. This state is referred to as congenital retinal nonattachment. One eye of a sibling had fluorescein angiographic findings of excessive branching of the retinal vessels and fluorescent dye leakage that were consistent with those of familial exudative vitreoretinopathy (FEVR). Bilateral hypoplasia of the optic nerve was found in all three patients by MRI. Genetic analysis showed a known in-frame deletion of the ATOH7 gene in all three patients. This is the first report of a patient with a mutation in the ATOH7 gene that had typical vascular patterns of FEVR in the peripheral retina. The ocular features associated with mutations in the ATOH7 gene overlap those with FEVR at both the early and advanced stages.

Magnetic Resonance Imaging Findings and Genetic Testing Results in Children With Congenital Corneal Opacities

This study investigates brain and globe abnormalities identified on magnetic resonance imaging (MRI) in children with congenital corneal opacities (CCO). Retrospective cohort study. Clinical notes, radiology records, and genetic testing results were reviewed for patients diagnosed with corneal opacification within the first 6 months of life at a tertiary referral academic center between August 2008 and January 2018. Ocular findings, systemic anomalies, neuroimaging, and genetic testing results were summarized. A total of 135 patients presenting at age 1 day to 12 years (mean age, 1 year) were identified. Children with bilateral CCO were more likely to have systemic disease (P = 0.018). Of the entire cohort, 43 (31.8%) patients received MRI, of whom 27 (62.8%) had abnormal brain findings and 30 (69.7%) had abnormal orbital findings. The most common abnormal brain findings were ventriculomegaly (n = 16, 59.2%) and corpus callosum abnormalities (n = 10, 37.0%) followed by brainstem/pons anomalies (n = 5, 18.5%), and cerebellar anomalies (n = 2, 7.4%). Abnormal brain MRI findings were associated with the presence of neurologic (P = .003) and craniofacial (P = .034) disease. A total of 44 (32.1%) patients underwent genetic testing, of whom 29 (65.9%) had pathogenic results. More than 60% of the children with CCO who underwent MRI had abnormal brain and orbit findings that were correlated with significant neurologic disease. Furthermore, almost two-thirds of patients with CCO who underwent genetic testing had pathogenic results. These data demonstrate the value of systemic workup in children with CCO, and highlight the role of ophthalmologists in facilitating the diagnosis of systemic comorbidities associated with CCO.

A case of tubulointerstitial nephritis and uveitis syndrome accompanied by subclinical choroiditis

BackgroundTubulointerstitial nephritis and uveitis (TINU) syndrome is an uveits characterized by complications of idiopathic acute tubulointerstitial nephritis, and most cases present only anterior uveitis. We report a case of TINU syndrome in which the presence of choroiditis was revealed by multimodal imaging.Case presentationA 12-year-old male visited our hospital with a 6-day history of ocular pain and hyperemia. Conjunctival and ciliary injections, 1 + flare and 3 + cells of anterior chamber inflammation with mutton fat keratic precipitates were observed in both eyes (OU), together with redness and swelling of the optic disc OU. Laboratory tests showed slightly high levels of soluble IL-2R and serum β2 microglobulin and markedly high levels of urinary β2 microglobulin. The diagnosis of probable TINU syndrome was established on the basis of bilateral uveitis and urinalysis results in accordance with a clinical criteria of tubulointerstitial nephritis. With treatment with oral prednisolone (PSL) at 20 mg/day, ocular findings improved, and the dose of PSL was gradually reduced and withdrawn 6 months later. However, 1 month later from the withdrawal, ocular inflammation recurred with the presence of retinal exudates and snowball vitreous opacities in the peripheral retina OU. Fluorescein angiography showed leakages from peripheral retinal vessels and staining corresponding to retinal exudates. Indocyanine green angiography showed hypofluorescent dots scattered over the ocular fundus. Optical coherence tomography revealed the presence of choroidal thickening. Laser speckle flowgraphy color map showed a relatively cooler color. Findings from these multimodal images indicated the presence of subclinical choroiditis; therefore, oral PSL was administered again, and ocular inflammatory findings were improved.ConclusionsTINU syndrome can exhibit subclinical choroiditis detected with multimodal imaging. Further studies are necessary to determine the frequency of subclinical choroiditis in TINU syndrome.