Iris Heterochromia Research Articles

Fuchs’ uveitis syndrome in dark-colored eyes: a case report

Introduction : The prevalence of Fuchs’ uveitis syndrome (FUS), or Fuchs’ heterochromic iridocyclitis, tends to be higher in light colored-eyes population of developed countries, with iris heterochromia as one of the main features. That classic iris finding does not usually present in dark colored-eyes population like Indonesia, in such manner that FUS is often overlooked.
 Case Illustration : A 38-year-old male presented with decrease vision of right eye four months before admission. There was minimal anterior chamber reaction, dispersed non-pigmented stellate keratic precipitates (KP), moth-eaten iris, posterior subcapsular (PSC) cataract without posterior synechiae and grade 0.5 of vitreous cells. A diagnosis of FUS was made by presenting signs, then cataract surgery was safely performed, and vision significantly improved without exacerbation.
 Discussion : FUS is a typically mild unilateral uveitis, with iris heterochromia, cyclitis, and cataract without posterior synechiae as its classic findings. Otherwise, iris heterochromia is probably absent in dark- colored eyes, that iris may appear with nodules and or small diffuse atrophy called moth-eaten appearance. Misdiagnosis is mostly caused by holding that iris heterochromia should always be presented and inflammation should be limited in the anterior segment only. FUS responds poorly to steroid and mistreatment with it causes further complication. In addition, cataract surgery is considered safe in FUS.
 Conclusion : This case shows the importance of evaluating FUS’ atypical signs. Iris heterochromia is sometimes overvalued, and its absence often leads to misdiagnosis. Steroid treatment is controversial, moreover, cataract surgery is safe in this case.

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families

BackgroundNance–Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features.Case presentationWe report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent SNP array testing and a novel deletion encompassing 22 genes including the NHS gene was detected. In Family 3, two half-brothers (P3 and P4) and maternal uncle (P5) had congenital cataracts and mild to moderate intellectual deficiency. P3 also had autistic and psychobehavioral features. Dental findings included notched incisors, bud-shaped permanent molars, and supernumerary molars. Duo-WES analysis on half-brothers showed a hemizygous novel deletion, c.1867delC; p.(Gln623ArgfsTer26).ConclusionsDental professionals can be the first-line specialists involved in the diagnosis of NHS due to its distinct dental findings. Our findings broaden the spectrum of genetic etiopathogenesis associated with NHS and aim to raise awareness among dental professionals.

Iris heterochromia and skin hyperpigmentation in an infant

Iris heterochromia and skin hyperpigmentation in an infant

Commentary: Clinical profile, demographic distribution, and outcomes of ocular siderosis: Electronic medical record-driven big data analytics from an eye care network in India.

Commentary: Clinical profile, demographic distribution, and outcomes of ocular siderosis: Electronic medical record-driven big data analytics from an eye care network in India.

Comparison of Clinical Characteristics between Rubella Virus and Cytomegalovirus Associated Chronic Unilateral Anterior Uveitis

ABSTRACT Purpose To identify the clinical characteristics that may predict the diagnosis of Rubella virus (RV) or Cytomegalovirus (CMV) among cases of chronic treatment resistant or steroid dependent unilateral anterior uveitis (AU). Methods Thirty-three consecutive patients with a diagnosis of CMV and 32 patients with RV chronic AU were enrolled. The respective frequency of certain demographic and clinical characteristics was compared between the two groups. Results The presence of abnormal vessels in the anterior chamber angle (75% and 6.1%, respectively, p < .001), vitritis (68.8%–12.1%, p < .001), iris heterochromia (40.6%–15.2%, p = .022) and iris nodules (21.9%–3%, p = .027) were more common among RV AU. Conversely, intraocular pressure greater than 26 mmHg was more commonly encountered in CMV associated AU (63.6%–15.6%, respectively, p < .001) and large keratic precipitates were detected only in CMV-associated AU. Conclusions RV- and CMV-induced chronic AU differ significantly in the prevalence of specific clinical characteristics.

Iris Heterochromia in Acquired Horner Syndrome Following Surgical Excision of Parapharyngeal Neuroblastoma

This report describes an infant who developed iris heterochromia 2 years after presenting at age 2 months with acquired Horner syndrome following excision of a parapharyngeal neuroblastoma. Iris heterochromia is classically associated with congenital, not acquired, Horner syndrome due to a disruption of the oculosympathetic pathway early in life that alters iris melanocyte migration, leading to an ipsilateral lighter colored iris compared to the fellow iris. In the case reported here, the disruption to the oculosympathetic pathway occurred so early in life that normal iris melanocyte migration was impacted on the affected side, leading to eventual iris heterochromia that was noted almost 2 years later.

Ten-year experience with intracameral chemotherapy for aqueous seeding in retinoblastoma: long-term efficacy, safety and toxicity

AimsTo report long-term results of intracameral chemotherapy (ICC) for aqueous seeding (AS) in retinoblastoma.MethodsRetrospective study including 20 patients with primary (n=4) or secondary non-iatrogenic (n=16) AS treated with ICC according...

An Iris Heterochromia Typical of Rubella

We report a unique iris morphology associated with congenital rubella syndrome (CRS) in 4 unrelated children (Fig A-D). A concentric heterochromia with a ring of lighter pigmentation around the pupillary margin surrounded by darker pigmentation, along with stromal hypoplasia of the iris in both eyes, was noted. All children were born with bilateral congenital cataract, hazy cornea, and were positive for Rubella immunoglobulin (Ig)M. All children had deafness, and patient B had congenital heart disease. Such a characteristic iris heterochromia, if observed, could point toward a diagnosis of CRS (Magnified version of Fig A-D is available online at www.aaojournal.org).

Factors associated with low prevalence of Fuchs' uveitis syndrome in Japan.

AimTo investigate the causes of low prevalence of Fuchs' uveitis syndrome (FUS) in Japan.MethodsMedical records of 160 patients diagnosed with FUS at 14 uveitis specialty facilities in Japan were reviewed retrospectively.ResultsIn 160 FUS patients, mean follow-up period before referral to our uveitis facilities was 31.6 ± 50.9 months. The most common reason for referral was idiopathic uveitis (61.9%), followed by cataract (25.0%), high intraocular pressure (IOP) including glaucoma (16.3%), and FUS (14.4%). Unilateral involvement was 96.9%. The most frequent ocular finding of FUS was anterior inflammation (91.9%), followed by stellate-shaped keratic precipitates (88.1%), cataract/pseudophakia (88.1%), diffuse iris atrophy (84.4%), vitreous opacity (62.5%), heterochromia (53.1%) and high IOP including glaucoma (36.3%). As treatments of these ocular findings, cataract surgery was performed in 52.5%, glaucoma surgery in 10.6%, and vitrectomy in 13.8%. Mean logMAR VA was 0.28 ± 0.59 at the initial visit, and decreased significantly to 0.04 ± 0.32 at the last visit. Proportions of FUS patients with BCVA <0.1 and 0.1 to <0.5 decreased, while that of ≥0.5 increased at the last visit compared with the initial visit.ConclusionsOcular findings of FUS in Japanese FUS patients were consistent with the characteristic features. The low prevalence of FUS in Japan may be a result of being overlooked and misdiagnosed as mild idiopathic uveitis, cataract, and/or glaucoma.

Waardenburg syndrome associated neurotrophic keratopathy in a child treated with neurotization surgery

Waardenburg syndrome (WS) is a genetic disorder characterized by congenital sensorineural hearing loss and pigmentary anomalies in the iris, hair, and skin. Ocular findings in WS include telecanthus, iris heterochromia, congenital cataracts, dry eye, and strabismus. To our knowledge, we report the first case of neurotrophic cornea in a patient with WS.

Iris Heterochromia and Choroidal Hypopigmentation in Waardenburg Syndrome

A 10-year-old Black boy was referred for possible retinal hemorrhages. His visual acuity was 20/20 in both eyes. Examination revealed complete iris heterochromia, with one blue iris and one brown iris (Fig A). Fundus examination demonstrated diffuse areas of choroidal hypopigmentation (Fig B-C), notably also in the eye with normal iris pigment. OCT showed a loss of choroidal reflectivity in areas of hypopigmentation (Fig D). The patient did not have a white forelock or hearing loss, but had facial features of telecanthus and a wide nasal root, consistent with a diagnosis of Waardenburg syndrome (Magnified version of Fig A-D is available online at www.aaojournal.org).

Iris Heterochromia and Scleral Yellowing Secondary to Self-Injury

An 18-year-old man with a history of Potocki-Lupski syndrome, intellectual disability, and autism presented with 2 weeks of progressive scleral yellowing and change in blue iris color to green in the left eye (Fig A). The patient’s mother reported a year-long history of frequent rubbing, hitting, and multiple attempts at self-enucleation. B-scan ultrasound of the left eye revealed a total retinal detachment (Fig B) without evidence of a foreign body. Clinical examination revealed an anterior chamber filled with yellow turbid fluid causing the patient’s blue iris to appear green. Subsequent episcleral drainage resulted in the unilateral pseudo-icteric appearance (Magnified version of Fig A-B is available online at www.aaojournal.org).

Ultra-Widefield Fundus Fluorescein Angiography Findings in Patients with Fuchs' Uveitis Syndrome.

Background:The aim of this study was to evaluate ultra-widefield (UWF) fundus fluorescein angiography (FFA) findings in patients with Fuchs’ uveitis syndrome (FUS).Materials and Methods:This cross-sectional study was conducted in patients with FUS. All the patients underwent a complete ophthalmologic examination, and FFA was carried out with Optos UWF retinal imaging. Standard FFA and image acquisition consisted of early phase (15–45 s) images, and late-phase (5–10 min) images were also obtained for both eyes.Results:Forty eyes from twenty unilateral FUS patients, including 11 females (55%), who had a mean age of 38.50 ± 6.97 years, were enrolled. Eighty-five percent of the FUS eyes had optic disc hyperfluorescence (ODH) in the FFA. A significant relationship was observed between ODH and iris heterochromia (P = 0.004). ODH was seen in all the patients with iris heterochromia (n = 16). Peripheral vascular leakage (PVL), capillary nonperfusion, chorioretinal scar, and vascular sheathing were observed in 3, 3, 2, and 8 of the patients’ eyes, respectively.Conclusion:UWF FFA imaging seemed to be mandatory for evaluating the prognosis of the FUS patients, and another investigation may require to be conducted to evaluate the effect of antivascular endothelial growth factor agents for the management of PVL in these patients.

Photoablative cosmetic iridoplasty: effective, safe, and predictable\u2014eye color change in 1176 eyes

PurposeTo evaluate photoablative cosmetic iridoplasty (PCI), and its efficacy, safety, predictability, and satisfaction with the 532 nm Crystal Q-switched Nd: Yag laser, with 3–4 ns pulses, for depigmentation of the anterior epithelium of the iris in cases of heterochromia, nevus, or cosmetic indications (eye color change).DesignProspective clinical study on efficacy, safety, predictability, and satisfaction.MethodThe selection of patients was carried out in healthy individuals, over 18 years of age, with iris heterochromia (congenital-7% or acquired, secondary to topical medication-1%, trauma-0.5% or surgery-0.25%), nevus-0.25% and cosmetic cases-91%. Data were collected independently by assistant optometrists and classified in database. Excel statistical program was used to perform a general descriptive study, calculation of correlation factors, and statistical significance analysis between quantitative variables (Student T Test). PCI was performed in 1176 eyes of 588 patients. The procedures were planned in 2–3 phases of 4 consecutive sessions spaced 4–6 months apart. The IRÎZ® (Eyecos®) scanner was used to evaluate the cases, with photography, optical coherence tomography, and pneumotonography modules, along with the following software programs: Predictor®, Simulator® 3D, Analyzer® and Planner® (Eyecos®).ResultsThis study began in 2012, so far 9 years of follow-up, to compare and choose the most suitable among 4 types of lasers to perform cosmetic iridoplasty. Finally, after 5 years, the Crystal Q-switched Nd: Yag at double frequency (532 nm) with 3–4 ns pulses demonstrated the highest efficacy, safety and predictability, so since early 2017 only this equipment has been used. Significant differences were found after 5-year follow-up between 1064, 532, 577 and 532/3–4 ns p = 0.09172, 0.06377 and 0.10183. From 9 January 2017 to 28 February 2020, 1176 eyes have been treated in 588 patients, with a mean age of 33.7 years (SD = 9.68 years, range = 18–70 years). 46.2% were male, and 53.7% were female. The efficacy, as quantified with the Analyzer® comparison software, was nearly 87–95%. There were no significant differences in corrected vision (9 years total follow-up p = 0.78235; last 4 years FU p = 0.99999) and ocular pressure (9 years total FU p = 0.68251; last 4 years FU p = 0.63204) before and after the procedure. The only notable complications (25%) were delayed and brief iritis, which were self-limited with routine topical treatment. The predictability was 80–90%. In the lightest-colored eyes, turquoise blue colors were obtained as a rule, in varying brightness; and in the darkest ones, gray blue tones of varying lightness. The patients’ subjective satisfaction at the end of treatment was 95%.ConclusionAfter 9 years of uninterrupted follow-up, PCI has demonstrated a high effectiveness to selectively depigment superficial melanin of iris, with a high predictability and patient satisfaction, without remarkable long-term complications. Only for a week, appropriate pre- and postoperative medication was necessary to guarantee the absence of discomfort, thus confirming security. PCI is effective, safe, and predictable for the treatment of pigmentary disorders in the iris and for the elective cosmetic indications in eye color change.

Familial Phenotype of Waardenburg Syndrome in One Family: A Case Series

Waardenburg syndromeis an accumulation of some genetic conditions which leads to sensorineural hearingloss (SNHL) and depigmentation of hair, skin, and eyes. The cause of sensorineural hearing loss in childrencan be congenital or hereditary, characterized by sensorineural deafness, associated with pigment disordersand tissue defects. Based on the accompanying symptoms, Waardenburg syndrome is divided into 4 types,where the most often ones are type 1 and 2. Clinical symptoms including dystopia canthorum, pigmentdisorders (white crest, abnormalities of eyebrow, eyelashes, body hair and iris heterochromia), sensorineuraldeafness, protruding nose and depigmentedhair at young age. Based on physical and additional examinationsperformed on five patients, all results showed mayor and minor symptoms of waardenberg syndromeaccompanied by dystopia canthorum, therefore classified aswaardenburg type 1.Conclusion: All patients are classified as type 1 Waandenberg syndrome which were inherited in the formof autosomal dominant.

Simultaneous Bilateral Cochlear Implantation in a Case of Waardenburg Syndrome – A Case Report and Review of Literature

We report a case of Waardenburg Syndrome (WS) who underwent simultaneous bilateral cochlear implantation and the evolution of auditory performance over a 5 year follow-up. Examination revealed a white forelock with iris heterochromia and confluent eyebrows (synophoris). Audiometric evaluation revealed bilateral profound sensorineural hearing loss. High resolution tomography of temporal bone showed normal inner ear anatomy and subsequently child underwent bilateral cochlear implantation which was followed by regular postoperative rehabilitation and speech therapy.

Siderotic glaucoma without detectable intraocular foreign body in a pseudophakic eye: a case report

BackgroundOcular siderosis is induced by a retained intraocular foreign body (IOFB) containing iron and can present as siderotic glaucoma. We report a rare case of histopathologically proven siderotic glaucoma in a middle-aged blacksmith with a preceding history of ocular trauma but no radiologically detectable IOFB.Case presentationA 42-year-old blacksmith presented with an elevation of intraocular pressure (IOP) in left eye showing iris heterochromia and brownish deposits throughout the trabecular meshwork (TM). Preoperative ophthalmic examination did not reveal any retained IOFBs. Electroretinography showed the classic changes of retinal degeneration in ocular siderosis. Histopathologic staining of the TM verified the presence of iron deposits.ConclusionThis case underlines the importance of the close monitoring of patients with a history of ocular trauma and highlights the necessity of electroretinography, histopathologic study, and detailed ophthalmic examination in the diagnosis of siderotic glaucoma, even if there is no definite radiologically detectable IOFB.

Síndrome Waardenburg Tipo I condición inusual en población pediátrica. A propósito de un caso

Introducción: El síndrome de Waardenburg (SW) es un trastorno genético poco frecuente con una incidencia de 1 por 40000 habitantes. Es originado por mutaciones en múltiples genes; estas alteraciones genéticas ocasionan anomalías en el desarrollo de los tejidos derivados de las células de la cresta neural y producen hallazgos fenotípicos característicos como iris de color azul claro o heterocromía del iris, poliosis, sordera neurosensorial, entre otros.&#x0D; Objetivo: Describir un caso clínico poco frecuente con hallazgos clínicos típicos del síndrome de Waardenburg tipo 1.&#x0D; Material y métodos Estudio descriptivo, retrospectivo, presentación de un caso clínico.&#x0D; Resultados: Se presenta un caso clínico de un pre–escolar masculino, de 3 años de edad, con antecedentes patológicos familiares: abuelo paterno, padre y hermano paterno con probable antecedente genético de SW. Se establece la importancia del índice W en el diagnóstico y clasificación del síndrome. Los hallazgos aquí reportados muestran la variabilidad de las manifestaciones fenotípicas según la clasificación. Así contribuye a un diagnóstico precoz y oportuno para actuar en beneficio de la salud de los niños. &#x0D; Conclusiones: El Síndrome de Waarbendurg que se presenta en este caso clínico es de tipo 1, hallazgo inusual en Pediatría, se diferencia del tipo 2 clínicamente por la distopía cantorum, que es característica de WS tipo 1, se reporta este caso con el fin de contribuir en el diagnóstico precoz y a una calidad de vida.

Ophthalmological features and treatments in five cases of Waardenburg syndrome.

The present study aimed to investigate the ocular characteristics and treatment of Waardenburg syndrome (WS). A total of five patients with Waardenburg syndrome from our hospital, aged between 1 and 8 years, were included in the present study. The clinical data of these patients were analyzed, and the ocular manifestations and treatments were described. The general manifestations included hearing loss (1/5), broad high nasal root (2/5) and hypoplasia of alae nasi (2/5). Ophthalmological evaluations revealed ptosis (1/5), strabismus 1 (1/5), synophrys (2/5), telecanthus (5/5), iris hypopigmentation (5/5), high intraocular pressure (1/5) and choroidal hypopigmentation (1/5). For patients with characteristic external eye abnormalities, including ptosis, ocular plastic surgery was performed. For patients with only symptoms of iris heterochromia, no special treatment was required. The findings from the present study suggest that patients with WS may have several characteristic ocular manifestations. Abnormalities in the eyelid can be corrected by ocular plastic surgery, which is beneficial to children's physical and mental development.

Genome-wide association studies for iris pigmentation and heterochromia patterns in Large White pigs.

Eye colour genetics have been extensively studied in humans since the rediscovery of Mendel's laws. This trait was first interpreted using simplistic genetic models but soon it was realised that it is more complex. In this study, we analysed eye colour variability in a Large White pig population (n=897) and report the results of GWASs based on several comparisons including pigs having four main eye colour categories (three with both pigmented eyes of different brown grades: pale, 17.9%; medium, 14.8%; and dark, 54.3%; another one with both eyes completely depigmented, 3.8%) and heterochromia patterns (heterochromia iridis - depigmented iris sectors in pigmented irises, 3.2%; heterochromia iridum - one whole eye iris of depigmented phenotype and the other eye with the iris completely pigmented, 5.9%). Pigs were genotyped with the Illumina PorcineSNP60 BeadChip and GEMMA was used for the association analyses. The results indicated that SLC45A2 (on chromosome 16, SSC16), EDNRB (SSC11) and KITLG (SSC5) affect the different grades of brown pigmentation of the eyes, the bilateral eye depigmentation defect and the heterochromia iridis defect recorded in this white pig population respectively. These genes are involved in several mechanisms affecting pigmentation. Significant associations for the eye depigmented patterns were also identified for SNPs on two SSC4 regions (including two candidate genes: NOTCH2 and PREX2) and on SSC6, SSC8 and SSC14 (including COL17A1 as candidate gene). This study provided useful information to understand eye pigmentation mechanisms, further valuing the pig as animal model to study complex phenotypes in humans.