Cataract surgery and artificial iris implantation in patient with oculocutaneous albinism: a case report.

We present a case report detailing the successful phacoemulsification surgery with artificial iris implantation for two individuals with oculocutaneous albinism. These women suffered from cataracts, resulting in reduced visual acuity and heightened photophobia due to iris pigmentary epithelium deficiency. The patients underwent phacoemulsification along with prosthetic artificial iris implantation into the posterior chamber. This intervention resulted in improved visual acuity, reduced photophobia and glare, and an overall enhanced quality of life. Our report highlights two cases of successful phacoemulsification and artificial iris implantation in patients with oculocutaneous albinism and cataracts, leading to improved visual acuity, reduced photophobia, and enhanced quality of life. Notably, there are no prior records in South American literature of cataract surgery combined with artificial iris implantation for oculocutaneous albinism patients up to the time of this publication.

Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity.

Purpose: The purpose of this study was to describe the association among nystagmus characteristics, foveal hypoplasia, and visual acuity in patients with albinism. Methods: We studied nystagmus recordings of 50 patients with albinism. The nystagmus waveform was decomposed into two types: dominantly pendular and dominantly jerk. We correlated the nystagmus type, amplitude, frequency, and percentage of low velocity (PLOV) to Snellen visual acuity and foveal hypoplasia grades. Results: The grade of foveal hypoplasia and visual acuity showed a strong correlation (r = 0.87, P < 0.0001). Nystagmus type and PLOV had the strongest significant (P < 0.0001) correlation with visual acuity (r = 0.70 and r = -0.56, respectively) and with foveal hypoplasia (r = 0.76 and r = -0.60, respectively). Patients with pendular nystagmus type had the lowest PLOV, and the highest grade of foveal hypoplasia (P < 0.0001). Severe foveal hypoplasia (grade 4), was almost invariably associated with pendular nystagmus (86%). Conclusions: Foveal hypoplasia grade 4 is associated with pendular nystagmus, lower PLOV, and worse visual acuity. Based on these results, nystagmus recordings at a young age may contribute to predicting visual outcomes.

Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.

Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. The aim of this study was to explore the neurovisual, cognitive, adaptive, and behavioral profile of children affected by OCA, also evaluating any possible effect of the visual acuity deficit on the clinical profile and genotype-phenotype correlations. Eighteen children (9 males, mean age 84 months ± 41; range 18-181 months) with a molecular confirmed diagnosis of OCA were enrolled in the study. We collected data on clinical history, neurodevelopmental profile, neurological and neurovisual examination, and cognitive, adaptive, and emotional/behavioral functioning. A global neurodevelopmental impairment was detected in 56% of the children, without evolving into an intellectual disability. All the patients showed signs and symptoms of visual impairment. Low adaptive functioning was observed in 3 cases (17%). A risk for internalizing behavioral problems was documented in 6 cases (33%), for externalizing problems in 2 (11%), and for both in 5 (28%). Twelve children (67%) showed one or more autistic-like features. Correlation analyses revealed significant associations between the visual acuity level and performance intelligence quotient (p = 0.001), processing speed index (p = 0.021), Vineland total score (p = 0.020), Vineland communication (p = 0.020), and socialization (p = 0.037) domains. No significant correlations were found between genotype and phenotype. CONCLUSION: Children with OCA may present a global neurodevelopmental delay that seems to improve with age and emotional/behavioral difficulties, along with the well-known visual impairment. An early neuropsychiatric evaluation and habilitative training are recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties. WHAT IS KNOWN: • Children with oculocutaneous albinism show dermatological and ophthalmological problems. • An early visual impairment may have negative implications on motor, emotional, and cognitive processes that would allow the child to organize his or her experiences. WHAT IS NEW: • In addition to a variable combination of ocular signs and symptoms, children with oculocutaneous albinism may present an early neurodevelopmental delay and emotional/behavioral difficulties. • An early visual treatment is recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties.

[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].

To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome (AS) complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature. "Angelman syndrome" "P gene" and "Oculocutaneous albinism type 2" were used as keywords to search at CNKI, Wanfang, and PubMed databases (from creation to December 2019). Then all the patients were analyzed. The patient in this study was a girl aged 1 year. After birth, she was found to present as white body, yellow hair, and nystagmus. She could raise her head at the age of 2 months and turn over at the age of 7 months. The head circumference was 42 cm and she could not sit alone or speak at present. Trio-based exome sequencing revealed that the patient carried a homozygous mutation of c.168del (p.Gln58ArgfsTer44) in the P gene, and her father was heterozygous and her mother was wild-type. The detection of copy number variation showed deletion on the maternal chromosome at 15q11.2-13.1 region (P gene located in this region) in the patient. Until December 2019, a total of 4 cases in the 4 literature had been reported. Adding our case here, the 5 cases were summarized and found that all the cases showed white skin, golden hair, and shallow iris after birth. Comprehensive developmental delay was found around 6 months of age after birth, and the language remained undeveloped in 2 cases till follow-up into childhood. Seizures occurred in 4 patients. Two cases had ataxia. All the 5 cases had acquired microcephaly. Two cases had a family history of albinism. Electroencephalogram monitoring was completed in 3 cases and the results were abnormal. Genetic tests showed that all the 5 cases had deletion on maternal chromosome at 15q11-13 region. Four cases carried mutation of P gene on paternal chromosome. And 1 case was clinically diagnosed as OCA2 without P gene test. AS combined with OCA2 is relatively rare. OCA2 is easily diagnosed based on the obvious clinical manifestations after birth. When combined with clinical manifestations such as neurodevelopmental delay, it might indicate the possibility of AS that is hardly diagnosed clinically at an early stage. Genetic tests can reveal the cross-genetic phenomenon of AS and OCA2 and the complex of them can be eventually diagnosed.

Characterizing melanoma in the setting of oculocutaneous albinism: an analysis of the literature.

Although it is established that individuals with albinism have increased risks for nonmelanoma skin cancers, melanomas occurring in the setting of albinism are rare. PubMed and Google Scholar were searched for individual case reports describing melanoma in individuals with oculocutaneous albinism (OCA). All published cases characterizing individuals with albinism and melanoma in the medical literature were gathered to evaluate any epidemiologic or histologic differences from melanomas arising in the general population. Frequencies of melanoma characteristics between the OCA literature cohort and general population were compared using Clopper-Pearson confidence intervals. From 1952 to 2018, at least 64 cases of melanoma in 56 individuals with albinism were reported in the global medical literature. The median age of diagnosis for melanoma in individuals with albinism was 41 years, and the median Breslow depth at diagnosis was 2.0 mm. The subtypes of melanoma were nodular in 33% and superficial spreading in 46% of these cases, respectively. Amelanotic melanomas comprised 65% of the cases in our OCA cohort; however, histologic subtypes were only available for fourteen of the amelanotic cases. Finally, 17% of melanomas in patients with albinism arose from preexisting lesions. Despite their rarity, melanomas arising in oculocutaneous albinism have distinct characteristics from melanomas arising in the general population. Clinicians should consider a differential diagnosis of melanoma for any potential skin malignancies in individuals with albinism.

Photosensitivity and filter efficacy in albinism✰.

PURPOSE: To describe the prevalence and severity of photosensitivity in patients with albinism, and to compare with ocular features and how this correlated with use and choice of optical filters. METHODS: Cross-sectional study on 81 participants with ocular or oculocutaneous albinism. An ophthalmic evaluation including visual acuity, contrast sensitivity and evaluation of iris translucency and fundus hypopigmentation was performed. Participants were offered optical rehabilitation with testing of a wide panel of filters. The associations between ocular characteristics, subjective photosensitivity complaints, and filter choice were evaluated. RESULTS: Photosensitivity was rated as "some" to "worst imaginable" in 77.8% of participants. Severity of photosensitivity correlated significantly with fundus hypopigmentation (p = 0.04) but not with iris translucency (p = 0.14) and it was worse in those with poor visual acuity but there was no association between photosensitivity and contrast vision. Seventy-four new pairs of spectacles were prescribed in the study. All outdoor spectacles contained a filter, whereas 26.5% of new indoor spectacles did not. Relatively neutral filter colors (gray, brown or a combination of gray and brown with other colors) and low transmission were preferred. DISCUSSION: Photosensitivity is common in albinism, but research targeting treatment is limited. Color and neutral filters with a low light transmission were preferred, with participants having a large number of spectacles, presumably to meet their needs in different situations.

INADVERTENT GLOBE PENETRATION AND SUBRETINAL INJECTION OF BOTULINUM TOXIN IN A PATIENT WITH OCULOCUTANEOUS ALBINISM.

PURPOSE: To present a case of localized retinal detachment and mild vitreous hemorrhage in a patient with oculocutaneous albinism after accidental intraocular injection of botulinum toxin A. METHODS: Botulinum toxin A injection was administered to a 5-year-old patient with oculocutaneous albinism with esotropia and resulted in an ocular penetration. Dilated fundus examination indicated a nasal retinal tear causing a mild vitreous hemorrhage and a localized retinal detachment. RESULTS: No treatment was required for the retinal detachment, and we observed the patient at regular intervals. On Day 1, the detachment resolved spontaneously without sequelae. On follow-up, scarring at the lesion site was detected at one month after the incidence, and the patient's vision was stable. CONCLUSION: In this instance, observation was sufficient for our patient with complete resolution of retinal detachment and no long-term complication. Botulinum toxin A did not seem toxic to intraocular tissues. However, intramuscular botulinum toxin A injection should be administered carefully. Oculocutaneous albinism did not seem to affect the final outcome in our case.

Bilateral Macular Vortex Veins in Oculocutaneous Albinism.

This case report describes a female patient aged 56 years with bilateral macular vortex veins and a history of oculocutaneous albinism who presented with photophobia and decreased vision since birth.

Refractive development in individuals with ocular and oculocutaneous albinism.

PURPOSE: Albinism is known to disrupt emmetropisation in animal models. However, it is not clear if the same effect is seen in humans. This study aimed to investigate the refractive profile in individuals diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA) based on a large dataset. METHODS: Required data from 618 individuals (61% males and 39% females) diagnosed with albinism were exported from the eyeSmart electronic medical records of L V Prasad Eye Institute. Overall, there were 112 (18%) individuals diagnosed with OA and 506 (82%) with OCA. Based on the spherical equivalent refraction (SER), individuals were classified as emmetropes, myopes, and hyperopes. RESULTS: The overall spherical equivalent refraction of the individuals ranged from -25.00D to + 12.00D with a median + 0.25D (-2.00 to + 2.25 D). The proportion of individuals with albinism (combined OA, OCA) having hyperopia and myopia (overall: N = 282;45.6% vs. N = 245;39.6%) were similar (p = 0.18), and the least were with emmetropia (overall: N = 91;14.7%). Across all the age groups (0-10, 11-20, 21-30, > 30 years), the frequency of hyperopes and myopes was significantly higher (p < 0.05) compared to emmetropes. Both high degrees of hyperopia and myopia were found in individuals diagnosed with OA and OCA. Irrespective of the albinism type, with-the-rule (70%) astigmatism was the most prevalent compared to other types of astigmatism. The frequency of with-the-rule astigmatism was significantly high in the presence of nystagmus compared to individuals with no nystagmus in both OA (75% vs 25%, p = 0.01) and OCA (77% vs 23%, p = 0.014) groups. CONCLUSION: The presence of both high hyperopia and high myopia and very few numbers with emmetropia across all age groups indicates disrupted normal refractive development in individuals with albinism. With-the-rule astigmatism and nystagmus may result in meridional degradation of the retinal image leading to impairment of normal emmetropisation process in individuals with albinism.

[Method of surgical treatment of patients with oculocutaneous albinism using artificial iris]. / Sposob khirurgicheskogo lecheniya patsientov s glazokozhnoi formoi al'binizma s primeneniem iskusstvennoi raduzhki.

Oculocutaneous albinism is a group of autosomal recessive disorders that directly affect the hypopigmentation of the skin, hair, and eyes. According to the World Health Organization, albinism occurs in 1 out of 20 000 people in Europe and North America. Congenital changes in the organ of vision in albinism lead to a significant decrease in the visual functions of patients, worsening their quality of life. PURPOSE: To study the results of surgical treatment with implantation of an artificial iris as a diaphragm element in patients with albinism. MATERIAL AND METHODS: This article was based on the examination and treatment of 2 patients suffering from oculocutaneous albinism, which is characterized by hypopigmentation of the iris and retinal pigment epithelium of the retina, foveolar hypoplasia, low visual acuity, nystagmus, strabismus and excruciating photophobia. The patients were implanted an artificial iris in both eyes with fixation in the capsular bag in the first patient, and in the ciliary sulcus in the second. RESULTS: In both patients, complaints of photophobia and optical phenomena have ceased. Visual acuity increased to 0.2 and remained without regression throughout the entire period of observation. Intraocular pressure and hydrodynamic parameters also remained stable throughout the observation period. The artificial irises were observed by ultrabiomicroscopy to remain in a stable position both when it was implanted in the capsule bag, and when it was seamlessly fixed in the ciliary sulcus. CONCLUSION: The surgical interventions relieved patients from glare, at the same time improving visual acuity without correction, as well as achieving a pronounced cosmetic effect and visual rehabilitation. Artificial irises have proven to be a safe and effective way to treat patients with oculocutaneous albinism.

Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia.

BACKGROUND: Septo-optic dysplasia (SOD) is a condition that affects the early development of the brain and eyes. It presents with a combination of optic nerve hypoplasia, brain midline structure abnormalities, and pituitary gland hypoplasia. METHODS: This is a case report of a 4-year-old male who presented with low amplitude horizontal nystagmus and decreased visual acuity 20/60 OU. Further imaging and electrophysiology were conducted to classify the ocular presentation. RESULTS: No iris transillumination was noted, but foveal hypoplasia and disc edema were evident on fundus examination. This prompted neurology consultation and MRI imaging. The MRI was consistent with the diagnosis of SOD showing hypoplasia of the optic nerves, chiasm, and tracts and an absent septum pellucidum, but with normal pituitary development and function. Lumbar puncture and intracranial pressure were normal. Genetic testing identified one pathogenic variant in the SLC45A2, indicating carrier status for oculocutaneous albinism type 4 (OCA4). Flash Visual Evoked Potentials (VEPs) were consistent with chiasm dysfunction or hypoplasia rather than the chiasmal misrouting of OCA. CONCLUSION: This case report further elaborates the phenotypic variation of SOD, with the finding of blurred disc margins, in the absence of the typical optic nerve double ring sign and with normal intracranial pressure. The findings of fovea hypoplasia and blond fundi lead to the suspicion of OCA either as a separate diagnosis with a second pathogenic variant in SCL45A2 not yet identified or in association with SOD. This case highlights the importance of electrophysiology to help distinguish chiasmal hypoplasia or dysfunction from OCA misrouting.

Long-term vision outcomes for patients with albinism and diabetic retinopathy.

PURPOSE: Albinism defines a group of genetic diseases which result from disordered melanin biosynthesis. Proliferative diabetic retinopathy (PDR) results from poorly controlled type 1 or 2 diabetes mellitus (DM) and can lead to blindness due to progressive neovascularisation. However, the treatment of PDR in patients with ocular/oculocutaneous albinism may be more challenging. In this study, we compared a group of patients with albinism and PDR, to a group with albinism and diabetes mellitus but no PDR, to examine the long-term implications. METHODS: Retrospective observational study included all patients with ocular albinism (OA) or oculocutaneous albinism (OCA) and DM who presented at a single specialist centre. Participants were allocated into either group 1 (eyes with PDR) or group 2 (all eyes without PDR). Statistical analysis was performed using SPSS V26.0. Between-group differences were investigated. RESULTS: Outcome data was available for 5 eyes from 3 participants in group 1 and 26 eyes from 13 participants in group 2. Despite interventions, a large and significant difference in vision at follow-up was observed between group 1 and group 2 (mean change in visual acuity: 1.11 (± 1.00) versus - 0.15 (± 0.46), respectively; p = < 0.0001). CONCLUSION: PDR is associated with poor long-term prognosis despite interventions for patients with albinism. Those without PDR appear to maintain stable vision. Alternative treatments for PDR and its complications may be required in this population. Measures to prevent the development of diabetic eye disease and progression towards PDR should be employed at an early stage.

Albino mice with the point mutation at the tyrosinase locus show high cholesterol diet-induced NASH susceptibility.

Non-alcoholic fatty liver disease (NAFLD) constitutes a metabolic disorder with high worldwide prevalence and increasing incidence. The inflammatory progressive state, non-alcoholic steatohepatitis (NASH), leads to liver fibrosis and carcinogenesis. Here, we evaluated whether tyrosinase mutation underlies NASH pathophysiology. Tyrosinase point-mutated B6 (Cg)-Tyrc-2J/J mice (B6 albino) and C57BL/6J black mice (B6 black) were fed with high cholesterol diet (HCD) for 10 weeks. Normal diet-fed mice served as controls. HCD-fed B6 albino exhibited high NASH susceptibility compared to B6 black, a phenotype not previously reported. Liver injury occurred in approximately 50% of B6 albino from one post HCD feeding, with elevated serum alanine aminotransferase and aspartate aminotransferase levels. NASH was induced following 2 weeks in severe-phenotypic B6 albino (sB6), but B6 black exhibited no symptoms, even after 10 weeks. HCD-fed sB6 albino showed significantly higher mortality rate. Histological analysis of the liver revealed significant inflammatory cell and lipid infiltration and severe fibrosis. Serum lipoprotein analysis revealed significantly higher chylomicron and very low-density lipoprotein levels in sB6 albino. Moreover, significantly higher small intestinal lipid absorption and lower fecal lipid excretion occurred together with elevated intestinal NPC1L1 expression. As the tyrosinase point mutation represents the only genetic difference between B6 albino and B6 black, our work will facilitate the identification of susceptible genetic factors for NASH development and expand the understanding of NASH pathophysiology.

Foveal avascular zone in oculocutaneous albinism.

Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal hypoplasia.

Management of aggressive posterior retinopathy of prematurity in oculocutaneous albinism.

A male infant, born preterm at 32 weeks of gestation, was referred at 36-week postmenstrual age for retinopathy of prematurity (ROP) screening. He had nystagmus, generalised hypopigmentation of skin, hair and eyes with preaxial polydactyly. The fundus was depigmented with prominently visible choroidal vessels. The retinal vessels were dilated, tortuous at zone 1. There was presence of arcading, shunting of vessels with presence of vitreous haemorrhage in the left eye. A diagnosis of aggressive posterior retinopathy of prematurity (APROP) in association with oculocutaneous albinism (OCA) was made.Half-dose intravitreal bevacizumab was used to treat the vascular condition. After 2 weeks, there was complete regression of APROP with a completely mature retina observed at 4 months post-treatment. Herein, we describe the role of red-free light for screening ROP in infants with OCA; challenges in the management of ROP with laser photocoagulation compared with intravitreal anti-vascular endothelial growth factor therapy.