Alport Syndrome: A Comprehensive Review.

Alport syndrome is an genetic disorder that distresses the basement membrane of the kidneys and can also impact other organs, such as the cochlea of the inner ear and eyes. It is characterized by mutation causing abnormalities in the collagen within the basement membrane, which has a crucial role in the filtration process of the kidneys. These abnormalities lead to progressive kidney damage and often result in chronic kidney disease. In some cases of Alport syndrome, the abnormal collagen can also affect the cochlea in the inner ear, leading to sensorineural hearing loss. Additionally, changes in the ocular lens, named anterior lenticonus, can occur, causing vision problems. Alport syndrome can manifest differently among individuals, and its severity can vary. Some people may experience mild symptoms, while others may develop more severe kidney problems, including end-stage renal disease, which may need dialysis or kidney transplant. Treatment for Alport syndrome primarily focuses on managing its symptoms and complications. Regular monitoring of kidney function and blood pressure, along with medications to control hypertension, are crucial aspects of the management plan. In cases of severe kidney damage, kidney transplantation may be necessary. As with any medical condition, early detection and intervention can improve results and quality of life for persons with Alport syndrome. Therefore, if there is a family history of the disorder or any concerning symptoms, it is essential to seek medical attention promptly. Genetic testing can help confirm the diagnosis and identify affected family members, allowing for appropriate monitoring and management.

[Ocular alterations in patients with Alport syndrome-An update]. / Okuläre Veränderungen bei Patienten mit Alport-Syndrom ­ ein Update.

BACKGROUND AND OBJECTIVE: Alport syndrome (AS) is a rare hereditary systemic disease that results in alterations of the kidneys, inner ear, and various structures of the eye. It is caused by mutations in one of the genes encoding collagen type IV. In recent years, new and innovative imaging techniques have added characteristics of ocular alterations in AS and provided new insights, including into the pathogenesis of the disease. The aim of this paper is to provide an overview of the current knowledge of ocular changes in AS, as well as to present the Alport ocular pass. METHOD: Narrative review article. RESULTS: Ocular manifestations of AS include changes in the cornea, lens, and retina. Specifically, posterior polymorphic corneal dystrophy, anterior lenticonus (pathognomonic for AS), and various retinal changes have been described, which have been further characterized in recent years by newer imaging techniques. In particular, foveal changes in AS may present as both a thickened central retina in the context of foveal hypoplasia or a staircase-like thinning of the fovea. Both lesions could provide further insights into the role of type IV collagen in ocular structures. CONCLUSION: The AS can manifest in various structures of the eye. The staircase-like changes of the central retina in AS patients indicate the important role of collagen type IV in the homeostasis and regular function of the inner retinal layers. The often mild foveal hypoplasia may provide clues to the role of collagen type IV in retinal embryogenesis. While anterior lenticonus is pathognomonic for AS and can be treated easily by refractive lens exchange, the only option currently available for retinal alterations is close follow-up and, if necessary, treatment of systemic complications of AS.

Bilateral spontaneous anterior lens capsule ruptures in a child: A rare presentation of Alport syndrome.

PURPOSE: This report describes the rare case of a child with bilateral spontaneous anterior lens capsule ruptures as the presenting feature of Alport syndrome. OBSERVATIONS: The clinical presentation, special investigations and surgical management of the child are described, accompanied by a brief discussion of the genetic basis for the ocular and systemic manifestations of Alport syndrome. CONCLUSIONS: Bilateral spontaneous anterior lens capsule ruptures as the presenting feature of Alport syndrome has not been described before.

Alport Syndrome and Femtosecond Laser-assisted Cataract Surgery.

We report the surgical management of a patient with bilateral anterior lenticonus due to Alport syndrome using femtosecond laser-assisted cataract surgery (FLACS) and the Optiwave Refractive Analysis (ORA) system. A 38-year-old man with Alport syndrome presented to our department with visual loss due to anterior lenticonus in both eyes. Adjustments during bilateral FLACS were performed with the software's calipers to manually delineate the anterior capsulotomy. Multifocal toric intraocular lenses (IOLs) were selected and placed in the posterior chamber with the aid of intraoperative aberrometry. The intended postoperative positioning parameters for the IOL as well as the planned visual acuity and refraction were achieved. The implementation of FLACS and intraoperative wavefront aberrometry is a safe and useful surgical approach for the management of cataract in challenging cases such as patients with anterior lenticonus due to Alport syndrome.

Femtosecond laser-assisted cataract surgery in Alport's syndrome - A case report.

Alport's syndrome with anterior lenticonus poses significant challenges during capsulorhexis with high chances of peripheral extension. We report a case of 23-year-old lady with Alport's syndrome with anterior lenticonus in the left eye that underwent successful femtosecond laser-assisted cataract surgery (FLACS). The anterior lenticonus was eccentric nasally; hence, the FLACS capsulotomy was positioned slightly nasally so that the capsulotomy margin was outside the cone base. The distance vision improved from 6/24 to 6/6 at one-month follow-up. In summary, FLACS improved the safety of cataract surgery in an eye with anterior lenticonus and yielded excellent visual outcomes.

Bilateral combined anterior and posterior lenticonus in Alport's Syndrome.

Alport's syndrome is an inherited disease characterized by hearing loss, progressive renal failure and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, fleck retinopathies, and temporal retinal thinning. To have anterior and posterior lenticonus in the same eye in this syndrome is a rare finding and only a few such reports are available. Hereby, we report a case of a 22-year-old male with bilateral combined anterior and posterior lenticonus with sensorineural deafness and nephritis leading to the diagnosis of Alport's syndrome.

Femtosecond laser-assisted cataract surgery in anterior lenticonus due to Alport syndrome.

PURPOSE: We describe a case of bilateral anterior lenticonus in a patient with Alport syndrome treated with femtosecond laser-assisted cataract surgery (FLACS). OBSERVATIONS: FLACS was performed without complication, and a desirable postoperative visual acuity was achieved. CONCLUSIONS AND IMPORTANCE: Femtosecond laser-assisted cataract surgery is an effective approach for managing patients with anterior lenticonus secondary to Alport syndrome.

Lenticonus diagnosis in Alport's syndrome: Anterior capsule apical angle calculation using Scheimpflug imagery.

OBJECTIVE: We describe a simplified method to detect anterior lenticonus. Three eyes of 2 patients with anterior lenticonus, plus 16 eyes from 16 healthy controls underwent Scheimpflug imaging of their anterior segment with Pentacam. The anterior capsule apex angle was manually identified and automatically measured by AutoCAD. RESULTS: The mean angle was 173.06° (SD: 1.91) in healthy subjects, and 158.33° (SD: 3.05) in anterior lenticonus eyes. The angle obtained from patients was more than 3 SD steeper than those from healthy subjects. CONCLUSIONS: The apical angle calculation method seems to discriminate well between normal eyes and eyes suspected of having anterior lenticonus.

Phacoemulsification in a Rare Case of Alport's Syndrome.

AIM: To report a rare case of Alport Syndrome (AS) highlighting the precautions and surgical complications during phacoemulsification. METHOD: A 35 year old female presented with bilateral painless progressive diminution of vision since 6 months and had bilateral deafness since 12 years. Best corrected visual acuity (BCVA) in both the eyes was 4/60. Bilateral anterior lenticonus, posterior polar cataract with posterior lenticonus, macular and peripheral retinal flecks, which are rarely reported in females, were present. Right eye phacoemulsification and IOL implantation was done. RESULT: During surgery capsulorrhexis underwent multiple dehiscence in a "flower petal pattern" due to fragile capsule. It was completed with microforceps under high viscocity viscoelastic. IOL was placed in sulcus due to extension of capsulorrhexis. BCVA was 6/12 at 1 month. CONCLUSION: This rare case highlights the importance of an eye ailment in revealing an important systemic disease. It also highlights proper management of complications that can give good result even in difficult cases.

Alport syndrome

Objective@#To present a case of Alport syndrome, its pathogenesis, etiology, clinical manifestation, diagnosis, and management.@*Methods@#This is a case report.@*Results@#A 22-year-old male presented with blurring of vision associated with bilateral anterior and posterior lenticonus. The patient had a history of blurring of vision on both eyes, occasional right lower-quadrant pain on urination, frothy urine, and bilateral hearing loss. Family medical history showed one brother who died at 15 years of heart disease, and another brother at 17 from chronic kidney disease. Slitlamp examination showed a conspicuous oil droplet reflex seen through retroillumination. Anterior and posterior bulging of the lens was noted, highly suggestive of anterior and posterior lenticonus. On indirect ophthalmoscopy, no perimacular dot-and-fleck retinopathy was seen. Further systemic workup revealed elevated serum levels of blood urea nitrogen (BUN) and creatinine, and marked proteinuria and hematuria. Ultrasound of the kidneys revealed bilateral renal parenchymal disease. Pure tone audiometry confirmed bilateral moderate sensorineural hearing loss. @*Conclusions@#There should be a high index of suspicion for Alport syndrome in any patient presenting with anterior and posterior lenticonus. A thorough history-taking and physical examination, including slitlamp examination through a dilated pupil, are necessary to fully support its diagnosis. There is no specifically defined treatment for Alport’s syndrome; management should be individualized and approached in a multidisciplinary fashion. Lenticonus can be treated by phacoemulsification with careful capsulorrhexis.

Progressive posterior lenticonus in a patient with alport syndrome.

We report a rare case of Alport syndrome with progressive posterior lenticonus. A 24-year-old male presented to our tertiary eye care center with history of poor vision. At initial presentation, the patient had bilateral anterior lenticonus, posterior subcapsular cataract, and renal failure. The patient was diagnosed with Alport syndrome based on a positive family history of the disease and clinical findings. Further examination revealed progressive posterior lenticonus that was not present initially. The presence of such finding is important because it influences the surgical approach to avoid complications during cataract surgery.

Ocular manifestations of Alport syndrome.

AIM: To analyze the clinical manifestation of Alport syndrome, especially the ocular features. METHODS: The physical, ophthalmologic and audiologic examination results of thirty-two patients with Alport syndrome were analyzed retrospectively. RESULTS: Thirty (93.7%) patients had some family history. All patients had renal disease: eighteen (56.3%) patients with chronic renal failure, four (12.5%) patients with renal insufficiency, and the other ten (31.3%) patients with hematuria. Twenty (62.5%) patients had sensorineural deafness. Thirteen (40.6%) patients had ocular deformity, five (15.7%) patients had typical ocular changes: three patients with anterior lenticonus, and two patients with macular flecks. CONCLUSION: Ocular anomalies are not requisite for the diagnosis of Alport syndrome. But its typical ocular features should be recognized by the ophthalmologists which supports the diagnosis.

Ocular manifestations of Alport syndrome / 国际眼科杂志(Guoji Yanke Zazhi)

·AIM: To analyze the clinical manifestation of Alport syndrome, especially the ocular features.·METHODS: The physical, ophthalmologic and audiologic examination results of thirty two patients with Alport syndrome were analyzed retrospectively.·RESULTS: Thirty (93.7%) patients had some family history. All patients had renal disease: eighteen(56.3%) patients with chronic renal failure, four(12.5%) patients with renal insufficiency, and the other ten(31.3%) patients with hematuria. Twenty (62.5%) patients had sensorineural deafness. Thirteen (40.6%) patients had ocular deformity, five(15.6%) patients had typical ocular changes: three patients with anterior lenticonus, and two patients with macular flecks.·CONCLUSION: Ocular anomalies are not requisite for the diagnosis of Alport syndrome. But its typical ocular features should be recognized by the ophthalmologists which supports the diagnosis.

Visual outcome after phacoemulsification with intraocular lens implantation in patients with anterior lenticonus due to Alport syndrome / 国际眼科杂志(Guoji Yanke Zazhi)

· AIM: We describe visual improvement after phacoemulsification with intraocular lens (IOL) implantation in 7 eyes with anterior lenticonus secondary to Alport syndrome.· METHODS: 7 eyes from 4 patients with Alport syndrome underwent phacoemulsification with IOL implantation due to anterior lenticonus.· RESULTS: All of the patients resumed excellent visual acuity after surgery.· CONCLUSION: We recommend the phacoemulsification with IOL implantation as a safe procedure in anterior lenticonus due to Alport syndrome.

A Case of Anterior Lenticonus in Alport's Syndrome

Alport's syndrome, first described by Alport in 1927, is a clinical entity which consists of lens abnormalities, hereditary hemorrhagic nephritis and nerve deafness. Anterior lenticonus is a rare structual anomaly of lens in which there is a conicalor spherical protrusion of the anterior lens surface into the anterior chamber as a characteristic finding of Alport's syndrome. The authers experienced a case of Alport's syndrome in a 22-year-old man associated with bilateral anterior and posterior lenticonus, hematuria, proteinuria, renal failur earld nerve deafness(complete form).