Alport syndrome is a hereditary disease characterized by glomerulopathy, manifested by hematuria and/or proteinuria, progressive decline in renal function, often combined with hearing and vision pathology. This article presents a clinical case of spontaneous opening of the anterior lens capsule in a patient with Alport syndrome, accompanied by uveitis and ophthalmic hypertension, and describes the features of the surgical aid and the postoperative period.
Синдром Альпорта — наследственное заболевание, характеризующееся гломерулопатией, проявляющееся гематурией и/или протеинурией, прогрессирующим снижением почечных функций, часто сочетающимся с патологией слуха и зрения. В статье представлен клинический случай самопроизвольного вскрытия передней капсулы хрусталика у пациента с синдромом Альпорта, которое сопровождалось увеитом и офтальмогипертензией; описаны особенности хирургического пособия и течения послеоперационного периода.

The authors present a case of a thirty-eight-year-old patient with Alport syndrome. The patient had several ocular symptoms of the disease and has been treated for systemic problems in connection with Alport syndrome since he was fifteen years old. At that age the patient also underwent a kidney transplant in order to deal with renal insufficiency. To date, he still uses immunosuppressants and antihypertensives. Furthermore, the patient suffers from perceptive deafness. The patient visited our clinic in 2021 with a request to solve his high refractive error, in which the diopters were so high that it was not possible to place them in spectacles. The patient\'s best corrected visual acuity was 0.6 with -8.0sph/-4.0cyl/ax15 in the right eye and 0.7partim with -8.0sph/-4.0cyl/ax155 in the left eye. The autorefractometer values were -6.25sph/-6.75cyl/ax17 in the right eye and -6.75sph/-6.5cyl/ax155 in the left eye. During the eye examination we found a number of ocular manifestations that are typical of Alport syndrome. On the cornea there were opacities as a residue of corneal erosions, and at one of the following check-ups we also found a newly developed corneal erosion. Subsequently, we found an anterior lenticonus and incipient cataract. Upon performing OCT, a typical temporal macular atrophy was evident. Fundus examination in artificial mydriasis showed just a minimal manifestation of fleck retinopathy. Due to the clinical manifestation we decided to perform cataract surgery and implant a monofocal toric intraocular lens in both eyes. There were no complications during the operations, however the surgeon registered a non-standard structure of the lens capsule. The capsule was more fragile, and performing capsulorhexis was much more complicated. A week after the surgery, higher cylinder diopters were still present. A decrease of the higher diopters was noticeable one month after surgery. The time interval between the first operation and the second operation was one month. The patient was highly satisfied with result, and uncorrected visual acuity improved by over four lines. After surgery the patient needed low diopters for near as well as far distance. In the case of this patient, the ocular manifestations were detected and treated in adulthood. Nevertheless, early detection of ocular symptoms of Alport syndrome in young patients before renal failure could lead to timely start of the treatment and delay a possible renal transplant. In case of any suspicion of Alport syndrome it is advised to send the patient to a pediatrician, and at an older age to an internal medicine specialist, for further examination.

The crystalline lens is an important structure in the eye that starts to develop as early as the 22nd day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual impairment or the presence or absence of any syndromic associations. While lens coloboma has more often been reported in isolation, the more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene. Recognition of these manifestations and obtaining a genetic diagnosis is an important step in the management. The level of visual impairment and amblyopia dictates the outcomes in patients managed either conservatively with optical correction as well as surgically where deemed necessary. This review discusses the various anomalies of the lens shape with its related genetics and the management involved in these conditions.

We report two cases of Alport syndrome and compare the clinical presentations and imaging findings in these cases. The clinical examination consisted of best-corrected visual acuity (BCVA), direct ophthalmoscopy, and slit-lamp examination. Macular optical coherence tomography (OCT) and anterior segment OCT (AS-OCT) and were utilized to document the details of the anterior and posterior segment pathologies. In order to evaluate systemic presentations of Alport syndrome, nephrology, and otolaryngology were consulted for each patient. In this study, the first case was a 27-year-old female with progressive myopia, anterior lenticonus, and temporal retinal thinning found in the ocular examination that led to the diagnosis of Alport syndrome. She underwent clear lens extraction and intraocular lens implantation, restoring acceptable visual acuity. The second case was a 20-year-old male patient with low visual acuity, severe bilateral anterior lenticonus, bilateral cataract, and temporal retinal thinning. The patient later developed renal failure and is a candidate for kidney transplantation. In this case report, progressive renal failure, hearing loss, and ocular abnormalities were all observed. This is consistent with previously reported cases given the typical characteristics of Alport syndrome, a rare inherited disease. The severity of those characteristics was higher in the male subject, a finding also consistent with prior reports indicating that males are usually affected more frequently and more severely than females, given that Alport syndrome is generally inherited as an X-linked disorder. Additionally, anterior segment and macular OCTs seemed to be of considerable significance in the early diagnosis of Alport syndrome given the typical ocular manifestations e.g. anterior lenticonus or temporal retinal atrophy.

BACKGROUND: Posterior lenticonus is an uncommon congenital abnormality that causes a progressive, localized spherical or conical bulging of the posterior capsular membrane, resulting in an abnormal shape of the lens.
METHODS: A 13-year-old girl presented with ametropia in both eyes. After mydriasis, examination revealed an oval bubble-shaped alteration with a distinct boundary above the temporal region on the center of the posterior capsule of her left lens. The subcortical region surrounding the alteration appeared feathery and turbid. The patient had no history of trauma or family history of visual impairment. Systemic investigations were normal. A thorough eye examination was performed, which included optometry, ultrasound biomicroscopy, ocular B-Scan, and anterior segment optical coherence, to assess the disease. The patient was diagnosed with posterior lenticonus in the left eye, as well as ametropia and anisometropia in both eyes. Conservative treatment was initiated since the patient\'s current best corrected visual acuity was good, and regular monitoring of the condition\'s progression was scheduled.
CONCLUSIONS: This case report presents a rare instance of posterior lenticonus. The findings of this report raise new considerations regarding the necessity of surgical intervention for this condition.

暂无摘要。

OBJECTIVE: To describe a previously unreported posterior pseudo-lenticonus sign in a patient with nipple cone keratoconus (KC).
METHODS: A 32-year-old female presented with complaints of right eye visual acuity loss. Although she was initially diagnosed with posterior lenticonus, the additional clinical evaluation revealed no true lenticonus. The corneal topography revealed a central nipple cone KC, and the crystalline lend finding was consistent with a pseudo-lenticonus.
CONCLUSIONS: Due to inadvertent visual effects, nipple cone KC may resemble posterior lenticonus.

Alport syndrome is a rare basement membrane disorder that may include ocular manifestations: dot-and-fleck retinopathy, anterior lenticonus, posterior polymorphous corneal dystrophy, or temporal macular thinning. It is primarily an X-linked inheritance condition (85%). This case report describes a 51-year-old male patient with Alport syndrome who was diagnosed due to ocular manifestations that were subsequently linked with a history of renal failure and bilateral sensorineural hearing loss. The diagnostic tools used were biomicroscopy, ultrasound, corneal topography, endothelial microscope analysis, macula optical coherence tomography, and fundus photography. Clear lens extraction was performed and improved his visual acuity. Further genetic analysis revealed a mutation in the COL4A5 gene on the X chromosome. Ocular manifestations can help determine the right diagnosis and help in multisystemic disease assessment. In cases of Alport syndrome, a nephrologist should be informed about the potential development of a specific antiglomerular basement membrane antibody that may lead to graft rejection. The patient\'s close relatives should also be examined.

We describe the technique of posterior optic capture without anterior vitrectomy in two difficult cases of pediatric cataract. We demonstrate how a three-piece foldable intraocular lens can be maneuvered behind the posterior capsule after an improvised posterior capsulotomy. This technique provided excellent intraocular lens (IOL) stability with the absence of lens epithelial cell proliferation in infants with altered posterior capsule morphology.

Alport syndrome is a genetic disorder that manifests as renal disease, hearing loss and ocular dysfunction. Lenticonus is one such ocular condition, in which the lens takes on an abnormal cone shape, with a protrusion either at the front or back of the lens. Both sides of the lens are rarely affected at the same time in the general patient population. Although anterior lenticonus is the type that is often reported in Alport syndrome, it is rare for such patients to have both anterior and posterior lenticonus. Here, the case of a 32-year-old male with Alport syndrome is described. The patient was diagnosed with a progressive posterior lenticonus, having been diagnosed eight years earlier with isolated anterior lenticonus. Examination of the eye revealed the typical indications of lenticonus with flecked retinopathy. The patient had co-presenting astigmatism and a refractive error, which could not be corrected by wearing contact lenses or spectacles. It is critical that such cases are anticipated and identified prior to performing surgery, so that an appropriate approach can be taken, thereby minimizing surgical complications.