Griscelli syndrome (GS) type II is a rare hereditary disorder characterized by partial albinism, immunodeficiency, and the subsequent development of hemophagocytic syndrome (HPS). Herein, we present a case involving a four-month-old infant admitted to our facility due to a prolonged fever complicated by HPS. The diagnosis of GS type 2 was established based on a constellation of clinical and laboratory findings: consanguinity, familial history of early infectious fatalities, ocular-cutaneous hypopigmentation, characteristic silvery hair sheen, onset of HPS, and notably, the pathognomonic appearance upon microscopic examination of a hair sample. The absence of giant granules within nucleated cells helped exclude Chediak-Higashi syndrome.

To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition. The aim of this study was to examine how French people with albinism and their parents live with and adapt to this condition in all the areas of their lives.
Semi-structured phone interviews were conducted with 9 parent-child dyads, each participating separately. Participants were recruited by convenience sampling, thanks to the combined efforts of a patient association (Genespoir) and professionals from the partner medical referral centers involved in the project. Dyads in which the individual with albinism had any comorbidity were excluded. The interviews were then transcribed and subjected to in-depth thematic analysis. Two codebooks were constructed in a mirrored process: one for people with albinism; the other for their parents. They were finally merged at the end of the coding step.
Four main categories were identified: personal perceptions and social representations of albinism, difficulties and obstacles encountered by people with albinism, resources and facilitators, and the importance of parent-child functioning. The results indicated that experiences of stigmatization during childhood and adolescence are common and that people with albinism face challenges in adapting to certain obstacles related to their visual impairments (VI) (e.g., inability to drive a car; eye strain...). Parents emerged as one, if not as the main, source of support for people with albinism throughout their development. Although external support systems exist to assist them in various aspects of their lives, some of them primarily rely on their own personal resources to cope.
This research highlights the importance of a systemic and transdisciplinary approach to make sure families receive the support that best meets their needs.

BACKGROUND: Oculocutaneous albinism is a congenital disorder that causes hypopigmentation of the skin, hair, and eyes due to a lack of melanin. People with albinism are at increased risk of developing skin complications, such as solar keratosis and skin cancers, leading to higher morbidity. As education is crucial in managing albinism, leveraging information technology, such as WhatsApp, can provide an effective intervention for digital health education.
OBJECTIVE: This study aims to assess the impact of WhatsApp as a tool for providing health education among people with albinism.
METHODS: The design of the study was interventional. The intervention consisted of weekly health education sessions conducted in a WhatsApp group for the duration of 4 weeks. The topics discussed were knowledge of albinism, sun protection practices, the use of sunscreen, and myths about albinism. They were all covered in 4 WhatsApp sessions held in 4 separate days. A web-based questionnaire was filled out before and after the intervention by the participants. Mann-Whitney U test was used to compare the pre- and postknowledge scores. Spearman correlation was used to correlate data.
RESULTS: The mean age of the study participants was 28.28 (SD 11.57) years. The number of participants was 140 in the preintervention period and 66 in the postintervention period. A statistically significant increase in overall knowledge (P=.01), knowledge of sunscreen (P=.01), and knowledge of sun protection (P<.01) was observed following the intervention. Before the intervention, a positive correlation was observed between age (r=0.17; P=.03) and education level (r=0.19; P=.02) with participants\' overall knowledge. However, after the intervention, there was no significant correlation between knowledge and age or education level. A percentage increase of 5.23% was observed in the overall knowledge scores following the intervention.
CONCLUSIONS: WhatsApp is an effective tool for educating people with albinism and can act as an alternative to the conventional methods of health education. It shows promising outcomes irrespective of the health literacy level of people with albinism. This educational intervention can positively impact behavior change and translate to consistent sun protection practices. The limitations of this study include the possibility of social desirability bias and data security.

Oculocutaneous albinism (OCA) could be either non-syndromic or syndromic. There are significant challenges in clinically recognizing and differentiating Hermansky-Pudlak syndrome (HPS) from non-syndromic OCA.
In a prospective consecutive case series, 63 patients (less than 18 years old) with a molecular genetic diagnosis of albinism (except OCA1A), Ocular albinism (OA) and Hermansky-Pudlak syndrome seen over a 3-year period were evaluated and analyzed. Hair colour, iris colour was graded, compared and correlated with the degree of fundus pigmentation and foveal development.
A total of 63 patients were evaluated. Forty-five patients had non-syndromic OCA (11 OCA1B, 24 OCA2, 9 OCA4, and 1 OCA6), 5 patients had OA and 13 patients had HPS. All 3 BLOC-related HPS categories were seen (1 with BLOC1, 7 with BLOC-2 and 5 with BLOC-3 related HPS). All patients with OA were hyperopic, had darker fundus pigmentation, but had poor foveal development. All HPS patients had lighter fundus pigmentation. The degree of fundus pigmentation correlated positively with the iris pigmentation and also with the foveal development only in OCA2.
Careful observation of the phenotype by comparison of the skin, hair, iris colour, with the degree of fundus pigmentation and foveal development may help clinically differentiate HPS from OCA patients of Chinese ethnicity even in the absence of any bleeding tendency.

Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses a diagnostic challenge as underlying pre-symptomatic \"multisystem\" disorders varying from benign to life-threatening should first be ruled out before nystagmus can be labeled as idiopathic. A multidisciplinary approach including multimodal ocular investigations and next-generation sequencing with whole-genome sequencing (WGS) or targeted gene panel testing is required to delineate the exact etiology. We report the clinical and genetic outcomes of 22 patients, from 22 unrelated families of diverse ethnicities, with IIN seen in the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between 2016 and 2022. Thirty-six percent (8/22) received a confirmed molecular diagnosis with eight mutations identified in two genes (seven in FRMD7 including one novel variant c.706_707del; p. [Lys236Alafs*66], and one in GPR143). This study expands the mutational spectrum of IIN and highlights the significant role of an integrated care pathway and broader panel testing in excluding underlying pathologies.

To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH).
Multicenter, observational study.
A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384).
Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans.
Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA).
The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH.
We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms of FH. In typical FH, our data suggest that arrested retinal development occurs earlier in SLC38A8, OA, HPS, and AHR variants and later in FRMD7 variants. The defined time period of foveal developmental arrest for OCA and PAX6 variants seems to demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FH and have significant prognostic and diagnostic value.

Oculocutaneous albinism is the result of a combination of homozygous recessive mutations that block the synthesis of the tyrosine and melatonin hormones. This disability is associated with physiological limitations, e.g., visual impairment expressed by lower visual acuity and movement perception, and eventually leads to acrophobia and/or photophobia, suggesting a potentially higher stress level associated with the behavioral responses of individuals with albinism to external stimuli compared to their pigmented conspecifics. However, in fish, differences in behavioral and/or physiological responses and stress levels between these phenotypes have been poorly documented. While acoustic perception of albino individuals is well known, the use of olfactory sensors for social communication, e.g., for the preference for familiar conspecifics, remains poorly understood. We performed two laboratory experiments with albino and pigmented European catfish Silurus glanis to observe: i) their behavioral and physiological responses to short-term stress induced by a combination of air exposure and novel environmental stressors and ii) their ability to use odor keys to recognize of familiar conspecifics and the influence of lateralization on this preference. In response to stress stimuli, albino fish showed higher movement activities and ventilatory frequencies and more often changed their swimming directions compared to their pigmented conspecifics. Blood plasma analysis showed significantly higher values of stress-, deprivation-, and emotional arousal-associated substances, e.g., glucose and lactate, as well as of substances released during intensive muscle activity of hyperventilation and tissue hypoxia, e.g., hemoglobin, mean corpuscular hemoglobin, erythrocytes, and neutrophil granulocytes. A preference test between environments with and without scented water showed the preference by both albino and pigmented catfish for environments with scent of familiar conspecifics, and both groups of fish displayed left-side lateralization associated with the observation of conspecifics and group coordination. The results tended to show higher physiological and behavioral responses of albinos to stress stimuli compared to the responses of their pigmented conspecifics, but the uses of olfactory sensors and lateralization were not differentiated between the two groups.

BACKGROUND: Albinism in humans is characterised by a reduced amount of pigment (melanin) present in the skin, hair follicles and the eye; approximately 7000-10 000 Malawians of all ages are affected. Children with these features face extreme forms of human rights abuses, even death.
OBJECTIVE: This study aims to describe Malawian mothers\' experiences, perceptions and understanding of raising children with albinism (CWA).
METHODS: The study was conducted in 2018 using a qualitative descriptive design, with purposive sampling and voluntary participation. Mothers, 18 years and older, who had given birth to a CWA and who attended the dermatology clinic of a local public hospital participated. An interview guide used during standardised, open-ended interviews was translated from English to Chichewa using forward and backward translation. Interviews were conducted in Chichewa, audio recorded, transcribed and forward and back translated from English to Chichewa. Thematic data analysis was employed.
RESULTS: The mean age of participants (N = 10) was 33 years; two had albinism. Emerging themes confirmed the existence of myths and stereotypes regarding albinism but from the mothers\' perspectives. Mothers reported: (1) some experiences of emotional pain, initially, but also love and acceptance of their children, despite adverse reactions of others; (2) their experiences of stigmatisation of their children and themselves, and of intended harm to their children, and (3) their own lack of knowledge and understanding of albinism.
CONCLUSIONS: In our limited study, mothers\' self-reported experiences of raising CWA in Malawi highlight the need for educational programmes on albinism at national level, particularly for families with a CWA, health professionals and educators.

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, GPR143. We report the clinical and genetic outcomes of 44 patients, from 40 unrelated families of diverse ethnicities, with query albinism presenting to the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between November 2017 and October 2019. Thirty-six were children (≤ 16 years) with a median age of 31 months (range 2-186), and eight adults with a median age of 33 years (range 17-39); 52.3% (n = 23) were male. Genetic testing using whole genome sequencing (WGS, n = 9) or a targeted gene panel (n = 31) gave an overall diagnostic rate of 42.5% (44.4% (4/9) with WGS and 41.9% (13/31) with panel testing). Seventeen families had confirmed mutations in TYR (n = 9), OCA2, (n = 4), HPS1 (n = 1), HPS3 (n = 1), HPS6 (n = 1), and GPR143 (n = 1). Molecular diagnosis of albinism remains challenging due to factors such as missing heritability. Differential diagnoses must include SLC38A8-associated foveal hypoplasia and syndromic forms of albinism.

Babies born with the genetic condition albinism lack pigment in their hair, skin and eyes due to compromised melanin production. This leads to poor vision and the risk of early death due to skin cancer. In Uganda, one of the least developed countries in the world, their lack of pigmentation makes them very different in appearance within their communities. Local explanations of albinism include links to witchcraft and the supernatural. We aimed to explore reactions to the birth of a baby with albinism in Uganda.
Secondary analysis of birth stories derived from qualitative interviews and focus group discussions in sharing circles.
Interviews took place in the Busoga subregion (kingdom) in the eastern part of Uganda.
Seventy-three (73) participants took part in eight sharing circles (n=56) and 17 individual interviews. Participants included people with albinism, parents of people with albinism and a range of other interested parties, including local leaders and teachers.
Reactions were generally those of shock and rejection, although cases of acceptance were also recorded. The varied explanations given to account for this unexpected event included accounts involving witchcraft, ghosts, animal familiars and religion, as well as genetics. In a framework surmising that someone must possess a dark skin to be intrinsically valued in African societies a baby with albinism does not fulfil this requirement of \'personhood\'. The mother was often blamed for having produced some \'thing\' that is not a proper person.
We argue that a biomedical explanation, although unlikely to displace other understandings, helps to establish a baby with albinism as a real person with a genetic difference, and hence fosters greater acceptance.