Unusual macular thickness in Alport syndrome: case report

Igami, Thais Zamudio; Lavezzo, Marcelo Mendes; Ferraz, Daniel; Takahashi, Walter Yukihiko; Nakashima, Yoshitaka

doi:10.1590/s0004-27492012000400014

Cited by 5 publications

(9 citation statements)

References 9 publications

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“…Ghadiri et al suggest that these features can be useful in the diagnosis and prediction of additional ocular abnormalities, the timing of renal failure, and even the mode of inheritance for AS. Igami et al [ 39 ] examined a case report with a rare ocular diagnosis. The middle-aged Caucasian AS female patient arrived at the clinic and was found to have bilateral macular atrophy.…”

Section: Resultsmentioning

confidence: 99%

“…Another option, which will continue to be explored, is gene therapy [ 39 ]. Gene therapy is a technique that either alters or replaces the abnormal gene with the correct form of the gene.…”

Section: Resultsmentioning

confidence: 99%

“…is entire process is summarized as a flow diagram in Figure 1. Of the 23 included studies, twelve were case studies on an individual or a group of patients [30,33,35,37,39,41,[43][44][45][46][47]50], two were prospective studies [29,38], three were retrospective studies [31,32,49], and six were mixed methodology studies that did not meet the previous three categories [28,34,36,40,42,48] (Table 1). 20 studies reported AS ocular abnormalities only [28,[30][31][32][33][34][35][36][37][38][40][41][42][43][44][45][46][47][48][49], and the remaining 3 studies reported both ocular abnormalities and potential medical treatments [29,39,…”

Section: Study Selection and Study Characteristicsmentioning

confidence: 99%

“…Of the 23 included studies, twelve were case studies on an individual or a group of patients [30,33,35,37,39,41,[43][44][45][46][47]50], two were prospective studies [29,38], three were retrospective studies [31,32,49], and six were mixed methodology studies that did not meet the previous three categories [28,34,36,40,42,48] (Table 1). 20 studies reported AS ocular abnormalities only [28,[30][31][32][33][34][35][36][37][38][40][41][42][43][44][45][46][47][48][49], and the remaining 3 studies reported both ocular abnormalities and potential medical treatments [29,39,50]. We did not identify any studies that confirmed a high success, standardized medical treatment for AS ocular abnormalities.…”

Section: Study Selection and Study Characteristicsmentioning

confidence: 99%

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Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review

Ramakrishnan

Shenoy

Meyer

2022

Journal of Ophthalmology

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Objectives. Alport syndrome (AS) is a severe, rare hereditary disorder that can lead to end-stage renal disease, auditory degeneration, and ocular abnormalities. Despite extensive research on AS in relation to auditory and renal disorders, more research is needed on the ocular presentations of AS. This systematic review aims to summarize the common ocular abnormalities in patients with AS and to explore the potential treatment options for these irregularities. Methods. The PubMed, MEDLINE, and EMBASE databases were systematically searched from January 1977 to April 2022. Only papers that were published in the English language and explored the ocular abnormalities in AS patients were selected. We manually searched reference lists of included papers for additional studies. Results. A total of 23 articles involving 195 patients were included in this review. The common ocular manifestations in AS patients are lenticonus, macular holes, fleck retinopathy, and thinning of the macula. Although published literature has described the use of cataract surgeries and vitrectomies as standard surgical techniques to alleviate ocular abnormalities in non-AS patients, it must be noted that surgical techniques have not been evaluated in a large research study as a solution for AS abnormalities. Another prospective treatment for AS is gene therapy through the reversion of causative COL4 variants to wild type or exon-skipping therapy for X-linked AS with COL4A5 truncating mutations. Gene therapy, however, remains unable to treat alterations that occur in the fetal and early development phase of the disease. Conclusions. The review found no definitive conclusions regarding the efficacy and safety of surgical techniques and gene therapy in AS patients. Recognition of ocular abnormalities through an ophthalmic examination with an optical coherence tomography (OCT) and slit-lamp examination is critical to the medical field, as ophthalmologists can aid nephrologists and other physicians in diagnosing AS. Early diagnosis and care can minimize the risk of detrimental ocular outcomes, such as blindness and retinal detachment.

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Section: Resultsmentioning

confidence: 99%

“…Another option, which will continue to be explored, is gene therapy [ 39 ]. Gene therapy is a technique that either alters or replaces the abnormal gene with the correct form of the gene.…”

Section: Resultsmentioning

confidence: 99%

Section: Study Selection and Study Characteristicsmentioning

confidence: 99%

Section: Study Selection and Study Characteristicsmentioning

confidence: 99%

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Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review

Ramakrishnan

Shenoy

Meyer

2022

Journal of Ophthalmology

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“…Ocular abnormalities are common in AS patients, including corneal opacities, anterior lenticonus, and dot-and-fleck retinopathy [6][7][8] . In recent years, researchers from different groups have reported that temporal retinal thinning is a frequently detected ophthalmic feature in AS [6,[9][10][11] . The occurrence of temporal retinal thinning is more common than other ocular abnormalities and is independent of other ocular features in AS patients.…”

Section: Introductionmentioning

confidence: 99%

Temporal retinal thinning might be an early diagnostic indicator in male pediatric X-linked Alport syndrome

Zhu¹,

Gu²,

Zhang³

et al. 2022

Int J Ophthalmol

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AIM: To evaluate temporal retinal thinning changes in retinal layers using spectral-domain optical coherence tomography (SD-OCT) in pediatric X-linked Alport syndrome (XLAS) patients. METHODS: A retrospective case-control study. SD-OCT scans of pediatric patients diagnosed with XLAS and age- and sex-matched healthy control participants were reviewed. Automated segmentation of SD-OCT scans was induced to analyze the retinal thickness (RT) of different layers. The temporal thinning index (TTI) was calculated for each layer and compared between the patients and the control group. RESULTS: Forty-three pediatric XLAS patients and 60 healthy controls were included. Temporal retinal thinning was present in 33 patients (76.74%), while 28 patients (65.11%) had severe pathological temporal retinal thinning and 5 patients (11.63%) had moderate thinning. The temporal inner sector RT (P<0.0001), the temporal outer sector RT (P<0.0001), and the nasal outer sector RT (P=0.0211) were significantly thinner in the XLAS male patients. The TTI of the total retina was significantly higher in the XLAS group than in the control group (P<0.0001). The TTI of the inner retina layers (P<0.0001), ganglion cell layer (P<0.0001), inner plexiform layer (P<0.0001), inner nuclear layer (P<0.0001), and outer nuclear layer (P<0.0001) were significantly higher in the XLAS group. The central RT of the XLAS group was significantly thinner than that of the control group (P<0.0001). CONCLUSION: Temporal retinal thinning appears early in XLAS patients, especially in male patients. The thinning is mainly caused by structural abnormalities of the inner retina. This suggests that temporal retinal thinning could be helpful for the early diagnosis and follow-up of XLAS with noninvasive SD-OCT examination.

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Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females

Petersen,

Belmouhand,

Hertz

et al. 2024

Ophthalmic Genetics

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Unusual macular thickness in Alport syndrome: case report

Cited by 5 publications

References 9 publications

Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review

Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review

Temporal retinal thinning might be an early diagnostic indicator in male pediatric X-linked Alport syndrome

Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females

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