Anterior Lenticonus Research Articles

Importance of ocular examination as a prerequisite in renal dysfunction patients prior to renal transplantation - A case report

Alport’s syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. A 30-years-old male patient, recently diagnosed with chronic kidney disease (CKD) stage 5 awaiting for renal transplantation presented to the ophthalmology outpatient department with a complaint of gradual decrease in vision in both eyes since 2 years. Patient has a history of anemia, hypertension for the past 3 years and was on medication for both. On ocular examination, unaided vision was counting fingers (CF)- 2 meters in both eyes with pinhole improvement to 6/60 in both eyes. On slit lamp examination, bilateral anterior lenticonus was seen after pupil dilation. On detailed history taking, the patient has a history of hearing loss since the past 6 months. ENT consultation was done, and the patient was found to have bilateral moderate sensorineural hearing loss. The presence of ocular abnormalities, bilateral sensorineural hearing loss and renal failure is highly suggestive of Alport’s syndrome. When a genetic disorder is identified, it aids in identifying the cause of renal dysfunction in that patient but also enables us to screen other family members for the same before deciding on the potential living donor. Keywords: lenticonus; hematuria; deafness; renal failure; Alport’s syndrome

The illusion of posterior lenticonus in a patient of anterior lenticonus

The rare occurrence of both anterior and posterior lenticonus in association with Alport’s syndrome has been reported. However, the diagnosis of posterior lenticonus in these cases was based solely on slit-lamp examination, casting doubt on its accuracy. This is the first report to use multimodal anterior segment imaging to confirm the absence of posterior lenticonus, despite the illusion of its presence through slit-lamp examination.

Changes in visual acuity and quality of life following lens surgery in Alport syndrome

Aims/Purpose: Alport syndrome can have ocular features, including anterior lenticonus, which affects vision and quality of life. We explored visual acuities and vision‐related quality of life, as quantified using the National Eye Institute 25 item Visual Functioning Questionnaire (VFQ‐25), in a cohort of patients before and after lens exchange surgery.Methods: Patients with genetically confirmed Alport syndrome were recruited for an ocular phenotyping study, and completed the NEI‐VFQ25 (a validated visual function questionnaire, yielding a total score out of 100). Patients with lenticonus were offered lens exchange surgery. Best recorded visual acuities before and after surgery were collated, and converted to logMAR for analysis. Changes in quality of life were ascertained by comparing scores obtained before, and some time after, surgery.Results: Five patients (10 eyes) underwent lens exchange surgery for lenticonus. All were male; mean (SD) age at first eye surgery was 43 (8.5) years. For right eyes, mean (SD) pre‐ and post‐operative logMAR visual acuities were 0.31 (0.28) and 0.05 (0.10), respectively. For left eyes, these were 0.23 (0.11) and 0.02 (0.10), respectively. Median pre‐op acuities were 0.30 and 0.18 for right and left eyes, respectively; median post‐operative acuities were 0.03 and 0.00, respectively. Median improvements were 0.2 and 0.18 for right and left eyes, respectively. Taking all eyes together, the improvement seen following surgery was significant (p = 0.001). Four of the five patients completed the VFQ25 before and after surgery. Initial and final mean (SD) scores were 68.5 (13.7) and 94.1 (4.9), respectively, with a significant difference seen (p < 0.05).Conclusions: Objective improvement in best‐recorded visual acuity was seen in this cohort of patients. Anterior lenticonus was shown to have an adverse effect of vision‐specific quality of life, with improvement demonstrated following lens exchange surgery.

Significance of Accurate Diagnosis and Optimal Management Approach for Bilateral Anterior Lenticonus

Significance of Accurate Diagnosis and Optimal Management Approach for Bilateral Anterior Lenticonus

Ayurveda approach to a rare case of Alport syndrome: A case report

Abstract Alport syndrome is a genetically inheritable condition occurring due to alterations in the alpha-5 chain of type 4 collagen. This affects the cochlea in the inner ear, the eyes, and the basement membrane in the glomerulus. The prevalence of the disease is 1 in 50,000, with a higher incidence among males. According to Ayurveda, defects in Shukra (sperm) or Shonita (ovum) lead to the development of Adi Bala Pravritta Rogas (genetic disorders). Ayurveda literature contains certain references to ocular, auricular, and renal manifestations of genetic disorders. In this case, a patient presented with complaints of gradual, progressive, painless vision impairment in both eyes over the last 5–6 years along with gradual impaired hearing over the past year. Ocular examination revealed bilateral anterior lenticonus. The tuning fork test suggested sensorineural hearing loss in both ears. Urine routine and bio-microscopic analysis showed hematuria. Currently, there is no viable cure for Alport syndrome in modern science. This case study highlights the potential of the Ayurvedic medical system to slow the progression of the disease and enhance the patient’s quality of life through a holistic approach.

Unusual refractive anomaly in Alport syndrome with lenticonus: A challenging case

Herein, we report a 15-year-old male with Alport syndrome, exhibiting hemorrhagic nephritis, hearing loss, and a 1-year history of poor distance visual acuity. Slit-lamp examination revealed bilateral anterior lenticonus, with unremarkable findings in other ocular structures. Unusual reflex movements were observed during retinoscopy, characterized by distinct central and annular reflexes yielding objectively an intraeye discrepancy of 12 D. Similar to the objective findings, a pair of subjective findings for each eye was obtained and each pair resulted almost equal visual acuity. However, small pupil size veiled plus error and final prescription was myopic.

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 theinner 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.

Nanophthalmos in a case of Alport syndrome: A unique presentation

A 20-year-old male having a positive family history of Alport syndrome presented to us with bilateral sensorineural hearing loss, hematuria, anterior central lenticular opacity in the right eye (RE), and anterior lenticonus in the left eye (LE). The patient had high hyperopia of +10 and +11 Diopter sphere in RE and LE, respectively. The anterior chambers (AC) were shallow (peripheral AC depth, Van Herick grade 1 and 0) with occludable angles on gonioscopy in both eyes (BE), which led us to suspicion of nanophthalmos. The axial length of ~15.35 mm and retinal–choroidal–scleral thickness of ≥2.20 mm in BE, on B scan, confirmed the diagnosis of nanophthalmos. We report this unique case presenting with phenotypes of two genetically diverse disorders, which, to our knowledge, has never been reported before.

Bull’s eye pattern of aberrometry in anterior lenticonus

We report an 18-year-old male patient with a progressive diminution of vision in both eyes. On examination, he had bilateral anterior lenticonus and sensorineural hearing loss. Slit–lamp examination finding of the anterior lenticonus was confirmed by wave front aberrometry on i-Trace. A diagnosis of Alport syndrome was made. Normal corneal topography and elevation maps with high total eye aberrations pointed to internal optics as the source of aberrations with predominant negative spherical aberrations. Uneventful phacoemulsification with intraocular lens implantation was performed. A significant reduction in total aberrations was noticed, and the patient’s visual disturbances were alleviated.

The utility of extended depth-of-focus intraocular lens in the management of higher-order aberrations and modulation transfer function in a case of Alport syndrome

This report describes the changes in the higher-order aberrations (HOAs) and modulation transfer function (MTF) in anterior lenticonus in a case of Alport syndrome managed by using extended depth of focus (EDOF) IOL. The patient was a 23-year-old male complaining of diminution of vision in both eyes and had a best-corrected visual acuity (BCVA) of 6/24 and 6/18 in the right and left eye, respectively. Slit-lamp examination revealed anterior lenticonus in both eyes. Optical coherence tomography showed temporal retinal thinning, and aberrometry revealed increased HOA and a reduction of MTF. The patient underwent sequential, bilateral, clear corneal phacoemulsification with EDOF IOL implantation. Postsurgery, improvements in BCVA and MTF with a significant reduction in HOA were noted. To conclude, the EDOF lens is a viable option for implantation in cases of Alport syndrome with anterior lenticonus.

Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causes X-linked Alport syndrome with astigmatism.

Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causes X-linked Alport syndrome with astigmatism.

Ocular alterations in patients with Alport syndrome-An update

Alport syndrome (AS) is arare 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 typeIV. 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. Narrative review article. 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 athickened central retina in the context of foveal hypoplasia or astaircase-like thinning of the fovea. Both lesions could provide further insights into the role of typeIV collagen in ocular structures. 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 typeIV in the homeostasis and regular function of the inner retinal layers. The often mild foveal hypoplasia may provide clues to the role of collagen typeIV 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.

Clear Lens Phacoemulsification with Implantation of Intraocular Lens in a Case of Bilateral Anterior Lenticonus Due to Alport Syndrome

Alport Syndrome (AS) is a rare disorder of basement membrane, which is progressive, hereditary and presents as nephritis associated with sensorineural hearing loss, and ocular abnormalities including anterior lenticonus. Anterior lenticonus secondary to Alport syndrome is difficult to correct, however clear lens phacoemulsification is a successful and safe treatment option for the anterior lenticonus associated with Alport Syndrome. We report visual status of a young patient with Alport Syndrome and bilateral anterior lenticonus, after clear lens phacoemulsification. A 17-year-old male with bilateral anterior lenticonus presented with decreased visual acuity. Systemic evaluation revealed Alport syndrome. Clear lens phacoemulsification and foldable acrylic intraocular lens implantation was done. Visual acuity improved after surgery. There were no notable complications. Clear lens phacoemulsification and foldable lens implantation are effective and safe procedures for individuals with this visual disorder.

RARE CASE OF ISOLATED ANTERIOR LENTICONUS

Lenticonus is a bulging of the lens capsule and the underlying cortex. The diagnosis of lenticonus is essentially a clinical diagnosis which is made by biomicroscopic examination. According to the localization of the conus a distinction is made between lenticonus anterior and lenticonus posterior. Sometimes isolated, it may be an ocular manifestation of Alport syndrome, a hereditary nephritis accompanied by deafness and other ocular signs such as ecked retinopathy or posterior polymorphous corneal dystrophy. All these manifestations are a result of a genetic defect in type IV collagen, a major component of basal membranes in the human body. The clinical aspects and therapy of anterior lenticonus and Alport syndrome are described, as well as the exploration that must begin when anterior lenticonus is discovered. Preconical lenses are less commonly reported and are ［ ］ more common in Alport syndrome (AS) If a patient with a conical 2 lens in front of eye is observed clinically, the possibility of being an AS patient should be ruled out rst. AS,typically manifested as renal injury (hematuria, proteinuria and progressive renal insufciency), neurosensorineural deafness and eye injury triad, more common in women, but male patients are more seriously ill, and most of them have renal failure before the age of 40. 11%~92% of AS patients have eye injury, of which anterior conus lens and spotted retinopathy are characteristic changes, mostly involving both eyes, usually only when renal failure occurs. Reference to the Flinter standard or the new Gregory standard ,For the family history and eye, ear, and kidneyrelated examinations of patients with suspected AS, clinical diagnosis can usually be established, and combined with pathological examination and collagen molecular immunopathological examination, clinicopathological diagnosis can be established in most cases .

CASE PRESENTATION: BILATERAL ANTERIOR POSTERIOR LENTICONUS

Aim: To report a case of bilateral anterior and posterior Lenticonus without sensorineural hearing loss, without renal associations. Case report We describe a case of bilateral anterior and posterior Lenticonus and absence of family history. No renal association could be identied on urine routine microscopy and ultrasonography of the abdomen. Clear lens extraction with phacoemulsication with posterior chamber Intraocular lens (PCIOL) was performed for the patient. Conclusion The presence of bilateral anterior and posterior Lenticonus is rare but may be a presentation of Alport syndrome. Clear lens extraction with Intraocular lens is a viable treatment option with good visual prognosis.

Anterior Segment and Macular OCT in Alport Syndrome

The authors examined a 48-year-old White man with genetically confirmed diagnosis of X-linked Alport syndrome. His vision was 20/25 Snellen in both eyes, while anterior segment examination revealed bilateral anterior lenticonus (Fig A). High-resolution swept-source anterior segment OCT (Anterion, Heidelberg Engineering) showed anterior bulging of the lens in greater detail (Fig B). Fundus photography documented peri-macular dot-and-fleck retinopathy giving rise to the typical “lozenge-sign” (Fig C, Eidon, Centervue) caused by the hyperreflectivity and thickening of the internal limiting membrane.

Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome.

PurposeTo analyze the characteristics of the choriocapillaris and the choroid in patients with Alport syndrome (AS) and investigate their clinical and demographic associations.MethodsMulticenter, cross-sectional study. Forty-two eyes with AS were consecutively enrolled. A cohort of 33 healthy eyes was included as controls. Demographics and medical history were collected for each participant. Each eye underwent 3 × 3 swept-source optical coherence tomography angiography (PLEX Elite 9000 2.0; Carl Zeiss Meditec, Dublin, CA, USA) and spectral-domain OCT (Spectralis HRA2; Heidelberg Engineering, Heidelberg, Germany). Choriocapillaris flow deficit (FD) number, mean FD size, total FD area, FD density, subfoveal choroidal thickness (CT), total CT, and choroidal vascularity index (CVI) were compared between AS and control eyes. Factors associated with the FD density and the CVI in AS were explored with multivariable linear mixed models.ResultsThere was high intragroup variability in choriocapillaris and choroidal measurements in patients with AS. Choriocapillaris FD in patients with AS were more numerous compared to controls (P = 0.02). FD density in eyes with AS increased with older age (estimate = 0.31% for each year; 95% confidence interval [CI], 0.06−0.57; P = 0.02) and was higher in patients with a history of kidney transplant (estimate = 9.66% in case of positive history; 95% CI, 3.52−15.8; P = 0.006). The CVI was lower in eyes with dot maculopathy (estimate = −3.30% if present; 95% CI, −6.38 to −0.21; P = 0.04) and anterior lenticonus (estimate = −6.50% if present; 95% CI, −10.99 to −2.00; P = 0.006).ConclusionsPatients with AS with kidney involvement requiring transplant may present with more severe choriocapillaris impairment. Lower choroidal vascularity was found in the presence of other ocular structural abnormalities.Translational RelevanceAn increased load of choriocapillaris flow deficits on optical coherence tomography angiography was found in patients with Alport syndrome who also had severe kidney disease requiring transplant.

A Case of Alport Syndrome Presented with Bilateral Anterior Lenticonus

Purpose: To report a rare case of Alport syndrome presented with bilateral anterior lenticonus in a 16 years old boy. Case report: A 16 years old boy presented with decrease vision, hearing defect, anaemia and proteinuria. His best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both eyes. He was managed by correction of refractive error and urgent referral to nephrologist. Conclusion: It is easy to diagnose Alport syndrome clinically and close communication between ophthalmologists, otorhinolaryngologists and nephrologists is crucial for effective management of this syndrome.

A Case of Alport Syndrome Presented with Bilateral Anterior Lenticonus

Purpose: To report a rare case of Alport syndrome presented with bilateral anterior lenticonus in a 16 years old boy. Case report: A 16 years old boy presented with decrease vision, hearing defect, anaemia and proteinuria. His best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both eyes. He was managed by correction of refractive error and urgent referral to nephrologist. Conclusion: It is easy to diagnose Alport syndrome clinically and close communication between ophthalmologists, otorhinolaryngologists and nephrologists is crucial for effective management of this syndrome.

A Case of Alport Syndrome Presented with Bilateral Anterior Lenticonus

Purpose: To report a rare case of Alport syndrome presented with bilateral anterior lenticonus in a 16 years old boy. Case report: A 16 years old boy presented with decrease vision, hearing defect, anaemia and proteinuria. His best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both eyes. He was managed by correction of refractive error and urgent referral to nephrologist. Conclusion: It is easy to diagnose Alport syndrome clinically and close communication between ophthalmologists, otorhinolaryngologists and nephrologists is crucial for effective management of this syndrome.