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Axenfeld-Rieger syndrome encompasses a group of developmental disorders affecting the anterior chamber structures of the eye, with associated systemic features in some cases. This study aims to compare the difference in anterior segment phenotypes such as those involving the cornea, iris, lens, and anterior chamber angle between cases with disease-causing sequence variations in FOXC1 and PITX2 .This cross-sectional study involved 61 individuals, from 32 families with pathogenic FOXC1 or PITX2 variants, who were registered with the Australian and New Zealand Registry of Advanced Glaucoma.The median age of the cohort was 39 years at the time of last assessment (range 3-85 years; females, 54%). Thirty-two patients had pathogenic variants in the FOXC1 gene, and 29 patients had pathogenic variants in the PITX2 gene. Corneal abnormalities were more common in individuals with FOXC1 variants (18/36, 50%) than those with PITX2 variants (4/25, 16%; P = 0.007). Iris abnormalities such as hypoplasia ( P = 0.008) and pseudopolycoria ( P = 0.001) were more common in individuals with PITX2 variants than those with FOXC1 variants. Glaucoma was present in 72% of participants. Corneal decompensation was positively associated with corneal abnormalities ( P0.001), glaucoma surgery ( P = 0.025), and cataract surgery ( P = 0.002).Corneal abnormalities were more common in individuals with FOXC1 than in those with PITX2 variants and were often associated with early onset glaucoma. These findings highlight that patients with FOXC1 variations require close follow-up and monitoring throughout infancy and into adulthood.

ObjectiveChildhood glaucoma is a chronic vision-threatening condition that may significantly impact an individual’s psychosocial well-being. There is a paucity of literature investigating the quality of life (QoL) in children with glaucoma. The aim of this study was to investigate and report on the QoL issues encountered by children with glaucoma.DesignThis is a qualitative interview study. Data were collected through semistructured interviews. NVivo V.12 software (QSR International Pty Ltd, Melbourne, Australia) was used to analyse and code data to identify QoL themes. The prominence of QoL themes was determined by the number of children who raised issues connected to the corresponding theme.SettingInterviews were conducted via telephone or videoconferencing between April 2020 and July 2021.ParticipantsEighteen children with glaucoma, aged 8–17 years, who resided in Australia, were recruited from the Australian and New Zealand Registry of Advanced Glaucoma.ResultsMedian child age was 12.1 years (IQR: 9.7–14.5 years) and 33% were female. Seven QoL themes were identified: ‘coping’, ‘inconveniences’ and ‘emotional well-being’ were more prominent themes than ‘symptoms’, ‘ocular health concerns’, ‘social well-being’ and ‘autonomy’. Adaptive coping strategies included resilience throughout clinical examinations and establishing positive relationships with ophthalmologists. These minimised inconveniences related to clinic waiting times and pupillary dilatation. External to the clinical setting, children often dissociated from their glaucoma but struggled with glare symptoms and feeling misunderstood by fellow peers. Older children aged 13–17 years commonly disengaged from their glaucoma care and expressed an unwillingness to attend ophthalmic appointments. Older children further raised issues with career options, obtaining a driver’s licence and family planning under the theme of autonomy.ConclusionsThe psychosocial impact of childhood glaucoma extends beyond the clinical environment and was minimised using coping strategies. Older children may require additional social and ophthalmic support as they transition into adulthood.

To investigate and report on the quality-of-life (QoL) issues experienced by caregivers of individuals with childhood glaucoma.Exploratory, qualitative study.Thirty-five caregivers of individuals with childhood glaucoma (defined as disease onset before 18 years of age) recruited from the Australian and New Zealand Registry of Advanced Glaucoma.A qualitative research methodology (interpretive phenomenology) was applied. Data were collected through semistructured in-depth interviews. NVivo-12 software (QSR International Pty Ltd) was used to analyze, code, and organize data into QoL themes inductively.Quality-of-life themes and their subthemes.The mean caregiver age was 50.2 ± 13.6 years, and 27 of 35 caregivers (77%) were mothers of an individual with childhood glaucoma. A total of 6 QoL themes were identified. Coping strategies and emotional well-being were the most prominent themes. Caregivers frequently adopted problem-focused adaptive coping strategies including partner or peer support, and normalization. A caregiver's psychosocial well-being was often impacted by feelings of guilt and regret regarding their child's delayed diagnosis, fear and anxiety related to medical and social support, and loss of control as their child developed medical autonomy. The effect of family planning from the perspective of the caregiver formed a novel QoL theme and was associated with normalization and parental confidence in management of the condition.Childhood glaucoma poses a substantial threat to a caregiver's psychosocial well-being. Strategies that promote normalization, peer support, psychotherapeutic intervention, and genetic counseling may be indicated and, indeed, critical to the caregiver as they adapt to supporting their child with glaucoma.

To explore and report on the quality-of-life (QoL) issues encountered by adults with childhood glaucoma.Exploratory qualitative study.Forty-seven participants with childhood glaucoma (defined as disease onset18 years) recruited from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG).A qualitative research methodology (interpretive phenomenology) was applied, and data were collected through semistructured in-depth interviews. NVivo-12 software (QSR International Pty Ltd) was used to inductively analyze and code data to identify QoL themes pertinent to the cohort studied.Quality-of-life themes and subthemes.Mean participant age was 40.0 ± 15.3 years, and 55% of participants were female. We identified 10 QoL themes pertinent to adults living with childhood glaucoma. Coping strategies and emotional well-being were the most prominent themes. Maladaptive coping strategies, including treatment nonadherence, were observed more commonly in individuals aged40 years and those without a vision impairment or reviewed less regularly. Emotional well-being was affected by feelings of being misunderstood because of the rarity of the condition, being self-conscious of physical manifestations of the disease, and anxiety related to possible disease progression and vision loss. The effect of childhood glaucoma on family planning formed a novel QoL theme and included worry for their child to inherit the condition and an inability to fulfill parental duties. This often led to genetic counseling-seeking behaviors. Mobility issues were infrequently experienced.Childhood glaucoma poses a substantial impact to the emotional well-being of adults with the condition, which is mediated by the use of coping strategies. Genetic counseling and family planning options may be important. This study supports the development of a childhood glaucoma-specific patient-reported outcome measure for assessment of the psychosocial impact of childhood glaucoma in adults.

Cone dystrophy, childhood vision impairment and education: are clinical measures of visual function adequate to support a child through education?

Purpose : This exploratory qualitative research was conducted to understand the quality of life (QoL) impacts of adult uveitis to develop a uveitis QoL item bank, and we present here the results of qualitative analysis of uveitis patient experience. Methods : A qualitative approach with phenomenological study design was employed to explore the common QoL domains in uveitis. Data were collected using focus groups and face-to-face interviews. The sessions were audio-recorded, transcribed verbatim, and analysed thematically. NViVo software was used to perform qualitative analysis. Results : Eight focus groups and 10 interviews were conducted with 41 patients with uveitis. Seven QoL domains were identified, namely symptoms, emotional, activity limitation, health concerns, convenience, social, and economic impact. Although these QoL domains have been previously identified in other eye diseases, the sub-themes within each QoL domain were unique to uveitis. Participants described a variety of symptoms including increased light sensitivity, blurred vision, pain, redness, and tearing. Participants repeatedly described feeling frustrated due to prognostic uncertainty and associated discomfort. Participants were concerned about the frequent relapses of inflammation, as well as side-effects from long-term systemic medications. Uveitis affected their ability to perform daily tasks such as using computers, driving, and reading books. Direct financial impacts included reduced work hours and the costs of treatment and specialist care. Conclusion : Participants with uveitis experience many symptoms in addition to medication-related inconveniences and activity limitations. The QoL issues identified will be used to develop a uveitis-specific QoL item bank. Refereed/Peer-reviewed

Significance This study develops psychometrically valid item banks across 10 areas of quality of life (QoL) specific to people with hereditary retinal diseases, which will enable clinicians and researchers to explore the impact of hereditary retinal diseases across all aspects of QoL. Purpose The purpose of this study was to assess the psychometric properties of hereditary retinal disease QoL item banks using Rasch analysis and demonstrate the effectiveness of a computerized adaptive testing (CAT) system in obtaining precise measurement of QoL using only a few items. Methods The hereditary retinal disease item banks were answered by 233 participants (median age, 58 years; range, 18 to 94 years; female participants, 59%). The hereditary retinal disease item banks cover 10 QoL domains: activity limitation, mobility, emotional, social, convenience, economic, health concerns, visual symptoms, ocular comfort symptoms, and general symptoms. Rasch analysis assessed the psychometric properties of the 10 item banks and provided item calibrations for the development of CAT. Computerized adaptive testing simulations were performed to calculate the average number of items required to gain precise measurement of each QoL domain. Results The convenience, economic, visual symptoms, and the social domains formed unidimensional scales. However, the activity limitation and health concerns domains demonstrated multidimensionality and required major modifications to resolve this, which resulted in four new QoL domains, namely, reading, driving, lighting, and concerns about the disease progression. In total, 10 item banks underwent CAT simulation testing, which indicated that 8 to 12 items were required to gain precise measurement of each QoL domain. Conclusions We have developed 10 psychometrically valid item banks to measure the QoL domains relevant to people with hereditary retinal diseases. On average, only 5 and 10 items were required to gain measurement at moderate and high precision, respectively.

Purpose: Our understanding of the coping strategies used by people with visual impairment to manage stress related to visual loss is limited. This study aims to develop a sophisticated coping instrument in the form of an item bank implemented via Computerised adaptive testing (CAT) for hereditary retinal diseases. Methods: Items on coping were extracted from qualitative interviews with patients which were supplemented by items from a literature review. A systematic multi-stage process of item refinement was carried out followed by expert panel discussion and cognitive interviews. The final coping item bank had 30 items. Rasch analysis was used to assess the psychometric properties. A CAT simulation was carried out to estimate an average number of items required to gain precise measurement of hereditary retinal disease-related coping. Results: One hundred eighty-nine participants answered the coping item bank (median age = 58 years). The coping scale demonstrated good precision and targeting. The standardised residual loadings for items revealed six items grouped together. Removal of the six items reduced the precision of the main coping scale and worsened the variance explained by the measure. Therefore, the six items were retained within the main scale. Our CAT simulation indicated that, on average, less than 10 items are required to gain a precise measurement of coping. Conclusions: This is the first study to develop a psychometrically robust coping instrument for hereditary retinal diseases. CAT simulation indicated that on an average, only four and nine items were required to gain measurement at moderate and high precision, respectively. usc Refereed/Peer-reviewed

Although being the second most common sight-threatening retinal vascular disease after diabetic retinopathy, the patient-centred impact of retinal vein occlusion has not been well studied. This study aims to understand the quality of life issues in people with retinal vein occlusion using a qualitative methodology.In-depth semi-structured interviews were conducted with 17 patients with retinal vein occlusion. All the interviews were digitally recorded and transcribed verbatim. An inductive analytic approach based on the constant comparative method was used for coding, aggregation, and theme development. The qualitative analysis was done using the software NVivo.Participants had a median age of 73 years (range 34-85 years; females, 71 per cent). Six quality of life themes were identified: concerns about the disease progression and treatment outcome (health concerns), emotional responses to the disease (emotional), experiencing a range of symptoms (symptoms), inability to do things as before (activity limitation), adapting to the visual loss (coping), and inconveniences due to the eye condition (convenience). Participants often felt that lasers and injections did not improve their vision. They feared that their eye condition may come back, or the other eye may be affected. They experienced a range of visual symptoms that affected their day-to-day performance, particularly reading small print, and driving at night. Having multiple treatments and frequent eye appointments were major sources of inconvenience. Patients adopted several coping strategies to manage the stress associated with visual loss.This study shows that several aspects of quality of life are compromised in people with retinal vein occlusion. The findings of this study will be used to identify the item content for a vitreoretinal disease-specific quality of life item bank.

Purpose: We are developing item banks assessing the impact of retinal and vitreoretinal diseases (excluding age-related macular degeneration, diabetic retinopathy, and retinal detachment, covered elsewhere) on quality of life (QoL) for adults. This study outlines the first two phases of the multi-stage process: content development and item evaluation. Methods: We grouped retinal and vitreoretinal diseases into hereditary and acquired. Development of the item banks involved two phases: item identification and item evaluation. The items were extracted from three sources: (1) 17 pre-existing PRO instruments, (2) 4 qualitative studies and (3) 79 semi-structured interviews. Item evaluation involved three stages namely, binning (grouping) and winnowing (reduction), expert panel opinion and cognitive interviews. Results: The item identification phase yielded 1,217 items. After three sessions of binning and winnowing, items were reduced to a minimally representative set (n = 411) across nine QoL domains namely, activity limitation, emotional, social, health concerns, symptoms, economic, mobility, convenience, and coping. The hereditary group had a total of 345 items and the acquired group had a total of 257 items. After 23 cognitive interviews items were amended for hereditary diseases resulting in a final set of 345 items and 3 items were amended for acquired diseases, resulting in a final set of 254 items. Overall across nine domains 189 items were common to hereditary and acquired retinal and vitreoretinal diseases. Conclusion: As most of the items were unique to hereditary versus acquired retinal and vitreoretinal disease groups separate item banks are required to capture the QoL impacts for hereditary and acquired retinal and vitreoretinal diseases. Refereed/Peer-reviewed

Advances in the understanding of the genetic, molecular, and cellular biology of retinal diseases have led to the development of new treatments. These expanding treatment options demand appropriate outcome measures for studies of treatment benefit including patient-reported outcomes (PROs). A plethora of PRO instruments assess impacts of retinal diseases from the patients' perspectives. We review all the studies that implemented PRO assessment in retinal diseases and also discuss quality assessment of the PRO instruments. We also include qualitative studies that explored quality of life impact on people with retinal diseases. Most studies used PRO instruments not specifically developed for retinal diseases (non disease specific), nor have they undergone comprehensive validation in this disease group. A few retina-specific PRO instruments are available, but they suffer from limited content coverage of quality of life. Finally, we discuss the need for a new comprehensive and technologically advanced PRO instrument to assess quality of life impacts in retinal diseases. Refereed/Peer-reviewed