Subluxation or dislocation of PCIOL is one of the complications of cataract operation in RP patients. This paper reports the presentation of PCIOL dislocation and subluxation and the management and outcome in 3 eyes of 2 RP patients. Two medical records of patients with RP who developed dislocated or subluxated PCIOL and subsequently underwent explantation of the dropped IOL were evaluated. Two patients had bilateral eye cataract operation done and had PCIOL implanted. Patient 1 developed left eye subluxated PCIOL inferiorly after 2 years of the cataract operation and right eye dislocated PCIOL anteriorly 4 years after cataract operation. Patient 2 develop right eye subluxated PCIOL inferiorly after 12 years of the cataract operation. Patient 1 with right eye dislocated PCIOL underwent intraocular lens (IOL) explantation and was left aphakic as her visual prognosis was poor due to advanced RP. The left IOL remained within the visual axis despite subluxation and no intervention has been done. Patient 2 with right eye subluxated PCIOL underwent IOL explantation and anterior chamber intraocular lens (ACIOL) implantation. ACIOL remained stable and visual acuity improved post-operation. Both the operations were uneventful. Post-operatively, there was no elevated intraocular pressure and no prolonged ocular inflammation, which required prolonged anti-inflammatory and no retinal detachment was seen. Both patient and surgeon should be aware of potential PCIOL subluxation or dislocation in RP. The presentation may be as late as more than a decade after the cataract operation.
Retinitis Pigmentosa

No abstract available.
Humans ; Retinitis Pigmentosa* ; Retinitis*

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.
Cataract Extraction ; Cataract* ; Hearing Loss ; Hearing Loss, Sensorineural ; Retinitis Pigmentosa ; Usher Syndromes* ; Visual Fields

The usher syndrome (US) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. It is the most common cause of the hereditary combined deafness-blindness in the western world. Three different types of US are recognized by clinical criteria. The US type I has severe to profound hearing loss, vestibular dysfunction, and prepubertally diagnosed retinitis pigmentosa, while the US type II has moderate to severe hearing loss, normal vestibular function, and later onset of retinitis pigmentosa. The US type III has a progressive hearing loss and retinitis pigmentosa with variable vestibular involvement. The diagnosis is confirmed by medical history and thorough otoscopical, audiologic, vestibular, and ophthalmological examinations. We have recently experienced a case of the US type I and report this with a brief review of the related literature.
Deaf-Blind Disorders ; Diagnosis ; Hearing Loss ; Hearing Loss, Sensorineural ; Retinitis Pigmentosa ; Usher Syndromes* ; Western World

The Usher syndrome is an autosomal recessive disorder that cause bilateral sensorineural hearing loss and progressive loss of vision. It is genetically heterogeneous and is the most frequent cause of hereditary deafness and blindness in human. There are three types of Usher syndrome that can be distinguished clinically and into different subtypes. Type 2 Usher syndrome is the most common form and less severe than Type 1. It is characterized by congenital, moderate to severe, high frequency sloping hearing loss, retinitis pigmentosa which is typically diagnosed in late adolescence, and normal vestibular function. Recently, we have experienced a case of clinically diagnosed Type 2 Usher syndrome in a 34 years old female. We report this case with a brief review of literature. This is the first Type 2 Usher Syndrome to be reported in the otolaryngologic field in Korea.
Adolescent ; Blindness ; Deafness ; Female ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Retinitis Pigmentosa ; Usher Syndromes ; Vision, Ocular

Pigmented Paravenous Retinochoroidal Atrophy(PPRCA) is a type of pigmentary retinopathy that affects mostly both eyes symmetrically without inheritance. The PPRCA occurs in both progressive and non-progressive forms, but most cases are non-progressive forms. The fundus appearance of PPRCA is characteristic, with peripapillary pigmentary change as well as areas of retinochoroidal atrophy adjacent to the perivenular pigmentary change. The authors have studied a case of PPRCA which was diagnosed through the characteristic fundus appearance and other ophthalmological examinations.
Atrophy ; Retinitis Pigmentosa ; Wills

Mitochondrial DNA (mtDNA) deletions have been found in a majority of patients with Kearns-Sayre syndrome (KSS). The proband, a 14-year-old male, presented with retinitis pigmentosa, bilateral ptosis with an external opthalmoplegia, and ragged-red fibers in his biceps. The common 5-kb deleted mtDNA was identified in the patient by a long template PCR and DNA sequencing analysis. The deletion was located within the 8469-1344 position and a 13-kb direct repeat sequence was shown in the junction.
Adolescent ; DNA, Mitochondrial* ; Humans ; Kearns-Sayre Syndrome* ; Male ; Mitochondria ; Polymerase Chain Reaction ; Repetitive Sequences, Nucleic Acid ; Retinitis Pigmentosa ; Sequence Analysis, DNA

Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy that usually develops before 20 years of age. It demonstrates multisystemic involvement with a triad of cardinal features: progressive ophthalmoplegia, pigmentary retinopathy, and cardiac conduction abnormalities. In addition, patients might have cerebellar ataxia, a high content of protein in the cerebrospinal fluid, proximal myopathy, multiple endocrinopathies, and renal tubular acidosis. We herein report the successful obstetric analgesic and anesthetic management of a 28-year-old parturient patient with KSS who required labor analgesia and proceeded to deliver by cesarean section. We extrapolate that regional analgesia/anesthesia might be beneficial for reducing the metabolic demands associated with the stress and pain of labor in patients with KSS. Efficient postoperative analgesia should be provided to decrease oxygen requirements.
Acidosis, Renal Tubular ; Adult ; Analgesia ; Anesthesia, Obstetrical* ; Cerebellar Ataxia ; Cerebrospinal Fluid ; Cesarean Section ; Female ; Humans ; Kearns-Sayre Syndrome* ; Mitochondrial Myopathies ; Muscular Diseases ; Ophthalmoplegia ; Oxygen ; Pregnancy ; Retinitis Pigmentosa

Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy that usually develops before 20 years of age. It demonstrates multisystemic involvement with a triad of cardinal features: progressive ophthalmoplegia, pigmentary retinopathy, and cardiac conduction abnormalities. In addition, patients might have cerebellar ataxia, a high content of protein in the cerebrospinal fluid, proximal myopathy, multiple endocrinopathies, and renal tubular acidosis. We herein report the successful obstetric analgesic and anesthetic management of a 28-year-old parturient patient with KSS who required labor analgesia and proceeded to deliver by cesarean section. We extrapolate that regional analgesia/anesthesia might be beneficial for reducing the metabolic demands associated with the stress and pain of labor in patients with KSS. Efficient postoperative analgesia should be provided to decrease oxygen requirements.
Acidosis, Renal Tubular ; Adult ; Analgesia ; Anesthesia, Obstetrical* ; Cerebellar Ataxia ; Cerebrospinal Fluid ; Cesarean Section ; Female ; Humans ; Kearns-Sayre Syndrome* ; Mitochondrial Myopathies ; Muscular Diseases ; Ophthalmoplegia ; Oxygen ; Pregnancy ; Retinitis Pigmentosa

No abstract available.
Bardet-Biedl Syndrome ; Humans ; Retinitis Pigmentosa ; Retinitis