Aniridic scleral fixation of intraocular lens: The answer to vision loss with photophobia!

Background: Aniridia is defined as missing iris tissue which can be partial, subtotal, or total. Characteristic clinical symptoms include photophobia and decreased visual acuity due to an increased light perception. In addition to this, disturbing cosmetic problems are prevalent. Even after implantation of an intraocular lens, patients often tend to be unsatisfied. Purpose: The answer to this problem lies in the implantation of an aniridic scleral fixation of intraocular lens (SFIOL), which has a central optical axis that acts as the refractive lens and a peripheral rim of a hyperpigmented area that mimics the iris and hence reduces photophobia. The purpose of the video was to demonstrate the use of black diaphragm intraocular lens (BDIOL) implantation, its surgical steps, and its outcomes. Synopsis: We report one such case where a young patient presented with post-traumatic aniridia with subluxated total cataract and spillover vitreous hemorrhage. He was subjected to a vitrectomy, cataract removal, and placement of an aniridic SFIOL with prolene 9-0 using the four-point fixation method. This gave an extremely gratifying outcome and solved both problems, that is, vision and photophobia. Highlight: Before implantation of the SFIOL, the patients had reduced visual acuity from aphakia and intolerable glare from aniridia. In this case-based approach and with relevant example, we tried to provide a solution for tricky scenarios like co-existing traumatic cataract and traumatic aniridia. The patient showed improved visual acuity and marked glare reduction after black diaphragm SFIOL implantation. Video link: https://youtu.be/atl60WetFsM.

Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3.

Aims: The study aims to detect the underlying genetic defect in two autosomal dominant congenital cataract (ADCC) families. Methods: A detailed family history was collected, pedigrees were drawn, and slit-lamp examination and lens photography were performed. Mutation screening was carried out in the genes for crystallins and connexins by PCR and Sanger sequencing. Ethnically matched controls were tested for the identified variants. Different bioinformatics tools were used to assess the pathogenicity of the observed variants. Results: In an ADCC family with total cataract, a novel change (c.166A > G) (p.Thr56Ala) in GJA8 was identified. In another ADCC family with nuclear cataract, c.134G > C (p.Trp45Ser) in GJA3 has been detected. These variants co-segregated completely in patients in their respective families and were neither observed in unaffected family members nor in ethnically matched 100 controls, excluding them as polymorphisms. Conclusions: The present study identifies a novel variant c.166A > G (p.Thr56Ala) in GJA8 in an ADCC family having total cataract and a previously known mutation c.134G > C (p.Trp45Ser) in GJA3 in another ADCC family. Thr56 in GJA8 seems to be a mutation hotspot, as previously an ADCC Mauritanian family harbored a different substitution (p.Thr56Pro) at the same codon, although for a different phenotype (nuclear cataract). Similarly, Trp45 in GJA3 appears as a mutation hotspot, as p.Trp45Ser has previously been reported for nuclear cataract in a Chinese ADCC family. p.Thr56 (GJA8) and p.Trp45 (GJA3) are in the extracellular loop 1 (EL1) in their respective connexin proteins, which, along with EL2, are essential for gap junction formation, hemichannel docking, and regulating the voltage gating of the channels. Hence, residues in these regions seem crucial for maintaining eye lens transparency.

Glaucoma refractario y catarata: un reto quirúrgico / Refractory glaucoma and cataract: a surgical challenge

Paciente masculino de 75 años de edad con antecedentes de hipertensión arterial y glaucoma por 30 años. Acudió a la Consulta de Baja Visión del Instituto Cubano de Oftalmología Ramón Pando Ferrer en el año 2016 y refirió disminución progresiva de la visión en el ojo izquierdo. Al fondo de ojo se observó daño glaucomatoso avanzado y degeneración macular seca en evolución. Después de combinar 3 fármacos para ambos ojos a dosis máxima, los valores de la presión intraocular no eran protectores. Se implantó válvula de Ahmed en temporal inferior del ojo izquierdo. A la semana, la agudeza visual se limitaba a movimiento de manos; la presión intraocular era de 6 mmHg y la atalamia grado 4. Se drenó desprendimiento coroideo seroso y se reformó la cámara anterior. Se indicó tratamiento antinflamatorio tópico, sistémico y midriático ciclopléjico. A los 15 días la agudeza visual mejor corregida era de 0,2 y la presión intraocular de 12 mmHg, sin atalamia. Tres meses después se realizó facoemulsificación y se colocó lente intraocular plegable en saco capsular. La agudeza visual mejor corregida era de 0,6 y la presión intraocular de 11 mmHg. La presión intraocular nunca ha superado los 15 mmHg; no se ha detectado progresión del daño glaucomatoso y se ha conservado la agudeza visual(AU)

A male 75-year-old patient with a 30-year history of hypertension and glaucoma presented at the Low Vision Service of Ramón Pando Ferrer Cuban Institute of Ophthalmology in the year 2016 and stated experiencing progressive vision reduction in his left eye. Funduscopy revealed advanced glaucomatous damage and dry macular degeneration in progress. After combining 3 drugs for both eyes at a top dosage, intraocular pressure values were not protective. An Ahmed valve was implanted in the inferior temporal quadrant of the left eye. One week later, visual acuity was limited to hand movement, intraocular pressure was 6 mmHg and athalamia was grade 4. The serous choroidal detachment was drained and the anterior chamber was reformed. Topical antiinflammatory, systemic and mydriatic cycloplegic treatment was indicated. Fifteen days later best corrected visual acuity was 0.2 and intraocular pressure was 12 mmHg, without athalamia. Phacoemulsification was performed three months later and a foldable intraocular lens was placed in the capsular sac. Best corrected visual acuity was 0.6 and intraocular pressure was 11 mmHg. Intraocular pressure has never exceeded 15 mmHg, glaucomatous damage has not been found to progress, and visual acuity has been preserved(AU)

Glaucoma refractario y catarata: un reto quirúrgico / Refractory glaucoma and cataract: a surgical challenge

Paciente masculino de 75 años de edad con antecedentes de hipertensión arterial y glaucoma por 30 años. Acudió a la Consulta de Baja Visión del Instituto Cubano de Oftalmología Ramón Pando Ferrer en el año 2016 y refirió disminución progresiva de la visión en el ojo izquierdo. Al fondo de ojo se observó daño glaucomatoso avanzado y degeneración macular seca en evolución. Después de combinar 3 fármacos para ambos ojos a dosis máxima, los valores de la presión intraocular no eran protectores. Se implantó válvula de Ahmed en temporal inferior del ojo izquierdo. A la semana, la agudeza visual se limitaba a movimiento de manos; la presión intraocular era de 6 mmHg y la atalamia grado 4. Se drenó desprendimiento coroideo seroso y se reformó la cámara anterior. Se indicó tratamiento antinflamatorio tópico, sistémico y midriático ciclopléjico. A los 15 días la agudeza visual mejor corregida era de 0,2 y la presión intraocular de 12 mmHg, sin atalamia. Tres meses después se realizó facoemulsificación y se colocó lente intraocular plegable en saco capsular. La agudeza visual mejor corregida era de 0,6 y la presión intraocular de 11 mmHg. La presión intraocular nunca ha superado los 15 mmHg; no se ha detectado progresión del daño glaucomatoso y se ha conservado la agudeza visual(AU)

A male 75-year-old patient with a 30-year history of hypertension and glaucoma presented at the Low Vision Service of Ramón Pando Ferrer Cuban Institute of Ophthalmology in the year 2016 and stated experiencing progressive vision reduction in his left eye. Funduscopy revealed advanced glaucomatous damage and dry macular degeneration in progress. After combining 3 drugs for both eyes at a top dosage, intraocular pressure values were not protective. An Ahmed valve was implanted in the inferior temporal quadrant of the left eye. One week later, visual acuity was limited to hand movement, intraocular pressure was 6 mmHg and athalamia was grade 4. The serous choroidal detachment was drained and the anterior chamber was reformed. Topical antiinflammatory, systemic and mydriatic cycloplegic treatment was indicated. Fifteen days later best corrected visual acuity was 0.2 and intraocular pressure was 12 mmHg, without athalamia. Phacoemulsification was performed three months later and a foldable intraocular lens was placed in the capsular sac. Best corrected visual acuity was 0.6 and intraocular pressure was 11 mmHg. Intraocular pressure has never exceeded 15 mmHg, glaucomatous damage has not been found to progress, and visual acuity has been preserved(AU)

A Case of Type 1 Ushers Syndrome with Bilateral Cataract

Ushers syndrome is an autosomal recessively inherited entity which is characterized by a retinitis pigmentosa and congenital sensorineural hearing loss. This syndrome represents different clinical features according to its subtypes. We experienced one case of type 1 Ushers syndrome, who had congenital hearing loss, visual field loss, visual loss of early childhood onset. We performed bilateral cataract extraction. Fundus examination after operation showed characteristic findings of retinitis pigmentosa. ERG was non-recordable ERG. Her audiogram confirmed the bilateral sensorineural hearing loss.