Eye Motility Alterations in Retinitis Pigmentosa

Purpose. We evaluated a sample of individuals with retinitis pigmentosa (RP) with the aim of assessing the presence or absence of ocular motility (OM) disorders.Materials and Methods. We included 23 out of the 25 individuals from the sample (9 females and 14 males) with an average visual acuity of 6/10.Results. The cover test about the vertical deviation in near distance showed an r/l in 3.45% and an l/r in 6.9%. The assessment of OM showed that 39.1% of the sample had a severe hyperfunction of the IO of the right eye and a severe hyperfunction (34.5%) of the SO of the left eye; 21.8% had a moderate hypofunction of right SO with a moderate percentage of hypofunction of 17.5% for the SO of the left eye; 30.5%, however, showed a serious hypofunction of the SR of both eyes; 21.7% of the sample showed a hyperfunction in both eyes of the IR.Conclusion. This alteration, however, is not attributable to either a high refractive defect (medium-low myopia: −1 diopter±3 SD) or to a severely impaired binocular vision (visual acuity, motor fusion, and stereopsis are normal or within a range of values commonly accepted). Therefore, the disorders of OM lead to a genetic origin.

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Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

International Journal of Molecular Sciences ◽

10.3390/ijms22052374 ◽

2021 ◽

Vol 22 (5) ◽

pp. 2374

Author(s):

Laura Kuehlewein ◽

Ditta Zobor ◽

Katarina Stingl ◽

Melanie Kempf ◽

Fadi Nasser ◽

...

Keyword(s):

Visual Acuity ◽

Genetic Testing ◽

Retinitis Pigmentosa ◽

Fundus Autofluorescence ◽

Retinal Disease ◽

New Drugs ◽

Autofluorescence Imaging ◽

Full Field ◽

Tertiary Referral Center ◽

The Right

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic visual field (VF), full-field electroretinography, full-field stimulus threshold, spectral domain optical coherence tomography, and fundus autofluorescence imaging. The genetic testing comprised candidate gene sequencing, inherited retinal disease gene panel sequencing, whole-genome sequencing, and testing for familial variants by Sanger sequencing. Twenty-four patients with mutations in PDE6B from 21 families were included in the study (mean age at the first visit: 32.1 ± 13.5 years). The majority of variants were putative splicing defects (8/23) and missense (7/23) mutations. Seventy-nine percent (38/48) of eyes had no visual acuity impairment at the first visit. Visual acuity impairment was mild in 4% (2/48), moderate in 13% (6/48), and severe in 4% (2/48). BCVA was symmetrical in the right and left eyes. The kinetic VF measurements were highly symmetrical in the right and left eyes, as was the horizontal ellipsoid zone (EZ) width. Regarding the genetic findings, 43% of the PDE6B variants found in our patients were novel. Thus, this study contributed substantially to the PDE6B mutation spectrum. The visual acuity impairment was mild in 83% of eyes, providing a window of opportunity for investigational new drugs. The EZ width was reduced in all patients and was highly symmetric between the eyes, making it a promising outcome measure. We expect these findings to have implications on the design of future PDE6B-related retinitis pigmentosa (RP) clinical trials.

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Type 3 Neovascularization Associated with Retinitis Pigmentosa

Case Reports in Ophthalmology ◽

10.1159/000471790 ◽

2017 ◽

Vol 8 (1) ◽

pp. 245-249 ◽

Cited By ~ 3

Author(s):

Jihene Sayadi ◽

Alexandra Miere ◽

Eric H. Souied ◽

Salomon Y. Cohen

Keyword(s):

Optical Coherence Tomography ◽

Visual Acuity ◽

Retinitis Pigmentosa ◽

Macular Edema ◽

Pigment Epithelium ◽

High Flow ◽

Type 3 Neovascularization ◽

Capillary Plexus ◽

The Right ◽

Type 3

Purpose: To report a case of type 3 neovascular lesion in a patient with retinitis pigmentosa (RP) complicated by macular edema. Case Report: A 78-year-old man with a long follow-up for RP was referred for painless visual acuity decrease in the right eye. Best-corrected visual acuity was 20/125 in the right eye and 20/40 in the left. Fundus examination showed typical RP and macular edema in both eyes. In the right eye, spectral domain optical coherence tomography revealed a marked cystic macular edema associated with disruption of the Bruch membrane/retinal pigment epithelium complex overlying a pigmentary epithelium detachment, with a vascular structure which appeared to originate from the deep capillary plexus and to be connected with the subretinal pigment epithelium space. Optical coherence tomography angiography showed a high-flow vessel infiltrating the outer retinal layers in the deep capillary plexus segmentation, and a tuft-shaped, bright, high-flow network that seemed to be connected with the subretinal pigment epithelium space in the outer retinal layer segmentation. This presentation was consistent with an early type 3 neovascular lesion in the right eye. Conclusion: Type 3 neovascularization may be considered a possible complication of RP.

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Effects of intravitreal aflibercept (Eylea) in the treatment of bilateral cystoid macular edema in retinitis pigmentosa: A case report

Medicinski pregled ◽

10.2298/mpns1906171d ◽

2019 ◽

Vol 72 (5-6) ◽

pp. 171-175

Author(s):

Sofija Davidovic ◽

Sanja Jovanovic ◽

Nikola Babic ◽

Aleksandar Miljkovic ◽

Desanka Grkovic ◽

...

Keyword(s):

Visual Acuity ◽

Retinitis Pigmentosa ◽

Macular Edema ◽

Cystoid Macular Edema ◽

Intravitreal Therapy ◽

Short Period ◽

Patient Reported ◽

Intravitreal Aflibercept ◽

Repeated Doses ◽

The Right

Introduction. The aim of the study was to evaluate the effects of intravireal injections of aflibercept (Eylea) on bilateral cystoid macular edema in a patient with retinitis pigmentosa. Material and Methods. A 17-year-old man presented with a moderate bilateral decrease of visual acuity (0.3) and ocular examination was performed. Optical coherence tomography imaging was performed and cystoid macular edema was detected in both eyes. Due to disease progression in a short period of time, intravitreal repeated injections of aflibercept (Eylea) were initiated according to recent clinical reports. Results. The initial values of cystoid macular edema before intravitreal therapy were 248 ?m in the right and 237 ?m in the left eye; they increased slowly in next several weeks. Four bilateral repeated doses of intravitreal aflibercept injections at 6-week intervals were given in local anesthesia. The patient reported a subjective improvement, and his visual acuity was 4/10 in both eyes. Objectively, the macular edema decreased at week 24, reaching 173 ?m in the right and 188 ?m in the left eye. Conclusion. There are few literature reports on the possible effects of intravitreal aflibercept injections in the treatment of retinitis pigmentosa-related cystoid macular edema. In our study, bilateral macular edema in a patient with retinitis pigmentosa has improved significantly after four consecutive treatments. Further studies are necessary with a larger sample size and longer follow-up period to obtain information on the role and safety of intravitreal drugs for cystoid macular edema in retinitis pigmentosa. This article has been corrected. Link to the correction <a href="http://dx.doi.org/10.2298/MPNS1910326E">10.2298/MPNS1910326E</a>

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Management of cataract in a case of retinitis pigmentosa with bilateral pseudoexfoliation syndrome

BMJ Case Reports ◽

10.1136/bcr-2020-238936 ◽

2021 ◽

Vol 14 (2) ◽

pp. e238936

Author(s):

Sucheta Parija ◽

Koyel Chakraborty

Keyword(s):

Visual Acuity ◽

Retinitis Pigmentosa ◽

Cataract Surgery ◽

Intraocular Lens ◽

Visual Outcome ◽

Pseudoexfoliation Syndrome ◽

Corrected Distance Visual Acuity ◽

History Of ◽

Hypertensive Woman ◽

The Right

Retinitis pigmentosa (RP) patients are at higher risk for macular oedema, anterior capsular phimosis and spontaneous dislocation of the implanted lens after cataract surgery. A 70-year-old hypertensive woman presented with diminution of vision in her left eye since 2 years. She had history of cataract surgery in the right eye 1 year ago. Her visual acuity was 20/200 in right eye and hand movements in left eye. Slit-lamp examination showed anterior capsular phimosis with intraocular lens in the right eye and pseudoexfoliation in both the eyes. Fundus examination revealed features of RP in both the eyes. Optical coherence tomography showed bilateral foveal atrophy. The patient underwent phacoemulsification cataract surgery with intraocular lens implantation in left eye and Nd:YAG laser capsulotomy in right eye. Postoperative best corrected distance visual acuity was 20/125 in right eye and 20/80 in left eye. This case highlights a rare coincidence of pseudoexfoliation syndrome in a patient with RP and the precautions undertaken during cataract surgery for an optimal visual outcome.

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Creating Hybrid Monovision with 7.0 mm XL Optic and High-Add AMD Intraocular Lenses (XL-MAGS) in a Patient with Retinitis Pigmentosa

Case Reports in Ophthalmology ◽

10.1159/000503093 ◽

2019 ◽

Vol 10 (3) ◽

pp. 304-311

Author(s):

Andreas F. Borkenstein ◽

Eva-Maria Borkenstein

Keyword(s):

Quality Of Life ◽

Visual Acuity ◽

Retinitis Pigmentosa ◽

Genetic Disorder ◽

Intraocular Lenses ◽

Visual Field Defects ◽

Subjective Quality Of Life ◽

Dominant Eye ◽

The Right

We report a case of a patient with progressed retinitis pigmentosa (RP) who underwent bilateral cataract extraction with implantation of a monofocal enlarged optic in the far dominant eye and a high-add AMD intraocular lens (IOL) in the near dominant eye (hybrid monovision XL-MAGS). A 71-year-old woman presented to our clinic complaining of reduced visual acuity additionally to her diagnosis of RP. The high-add IOL LENTIS® MAX LS-313 MF80 (Oculentis, Germany) was implanted in the right eye and the 7.0 mm optic ASPIRA-aXA IOL (HumanOptics, Germany) in the left eye. Six months postoperatively, the uncorrected distance visual acuity improved from hand motion to 0.5 logMAR in the right eye and to 0.3 logMAR in the left eye. Similarly, best corrected near visual acuity significantly improved to 0.4 and 0.7 logMAR, respectively. The patient’s subjective quality of life and autonomy improved significantly. RP is a severe retinal disease which leads to loss of vision and typical “tunnel vision” with visual field defects. As this genetic disorder is incurable, many ophthalmologists are not willing to perform cataract surgery. However, this case report shows that creating hybrid monovision with a high-add lens and a 7.0 mm optic IOL led to improvement of visual function and, more importantly, enhanced quality of life and self-autonomy of the patient.

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Intravitreal and Subtenon Depot Triamcinolone as Treatment of Retinitis Pigmentosa Associated Cystoid Macular Edema

Case Reports in Ophthalmological Medicine ◽

10.1155/2013/591681 ◽

2013 ◽

Vol 2013 ◽

pp. 1-8 ◽

Cited By ~ 1

Author(s):

Sidnei Barge ◽

Renata Rothwell ◽

Paula Sepúlveda ◽

Luís Agrelos

Keyword(s):

Visual Acuity ◽

Retinitis Pigmentosa ◽

Macular Edema ◽

Intravitreal Injection ◽

Cystoid Macular Edema ◽

Treatment Options ◽

Corrected Visual Acuity ◽

Anatomic Results ◽

The Right ◽

Decrease In Visual Acuity

We present a case of retinitis pigmentosa (RP) related cystoid macular edema (CME) refractory to oral acetazolamide and topical ketorolac that was treated with intravitreal and subtenon depot triamcinolone. A 32-year-old male with RP presented with complaints of bilateral decrease in visual acuity. His best-corrected visual acuity (BCVA) was 20/50 in the right eye and 20/100 in the left eye. After being informed of the available treatment options, the patient received bilateral intravitreal injection triamcinolone. The patient’s BCVA improved to 20/40 in the right eye and 20/50 in the left eye and the CME was resorbed. However, 5 months after the injection in the left eye and two months in the right eye, visual acuity decreased due to recurrence of CME. We performed a second intravitreal injection in the left eye with improvement of visual and anatomic results, but we observed a recurrence of CME. Afterwards, we treated the patient with subtenon depot triamcinolone in both eyes, with the result that there was no recurrence after 4 months in OD or after 3 months in OS. We conclude that intravitreal and subtenon depot triamcinolone appear to provide at least temporary benefit in refractory CME as regards the improvement of visual acuity.

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Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation

Case Reports in Ophthalmological Medicine ◽

10.1155/2017/5310924 ◽

2017 ◽

Vol 2017 ◽

pp. 1-8 ◽

Cited By ~ 1

Author(s):

Xun Wang ◽

Cong Zheng ◽

Wen Liu ◽

Hui Yang

Keyword(s):

Optical Coherence Tomography ◽

Visual Acuity ◽

Genetic Testing ◽

Retinitis Pigmentosa ◽

Optic Neuritis ◽

Binocular Vision ◽

Night Blindness ◽

History Of ◽

Sudden Decrease ◽

Electroretinographic Response

To identify the cause of a sudden binocular vision decrease in patients with retinitis pigmentosa and bilateral idiopathic demyelinating optic neuritis is difficult, but early diagnosis and treatment significantly improve the prognosis. Here, we report a 6-year-old boy with a progressive binocular vision decrease in 38 days. The patient had a history of night blindness, a mottled retina without pigmentation, extinguished electroretinographic response, tritanopia, and an absent ellipsoid zone outside the macula fovea by optical coherence tomography in both eyes. His condition was diagnosed as retinitis pigmentosa (RP) with idiopathic demyelinating optic neuritis (IDON). After corticosteroid therapy, visual acuity recovered to OD: 0.5 and OS: 0.4. Genetic analysis revealed a G985S variant in the oral-facial-digital syndrome 1 gene. Ophthalmologists should pay attention to the existence of other complications in patients with RP who suffer a sudden decrease in vision. A gene survey can help clarify this diagnosis. To our knowledge, this is the first report of a patient with RP and ON, as well as genetic testing results. Nevertheless, the pathogenicity of the variant needs further confirmation.

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A Decrease In Visual Acuity Revealing A Pituitary Apoplexy

European Journal of Medical and Health Sciences ◽

10.24018/ejmed.2020.2.3.302 ◽

2020 ◽

Vol 2 (3) ◽

Author(s):

Joumany Brahim Salem ◽

Sidi Dahi ◽

Mahdi Khammaily ◽

Wafa Akioud ◽

Yassine Mouzari ◽

...

Keyword(s):

Visual Acuity ◽

Pituitary Adenoma ◽

Pituitary Apoplexy ◽

Ocular Motility ◽

Light Perception ◽

Sudden Decrease ◽

The Right ◽

Acute Headache ◽

The Brain ◽

Decrease In Visual Acuity

Pituitary apoplexy is caused by an infarction or a hemorrhage in a pituitary adenoma. It is a very serious but rare accident. We present the case of a 28-year-old patient with no specific history who had experienced severe acute headache and a sudden decrease in visual acuity. Clinical examination showed a VA with negative light perception on the right and 1/10 on the left , bilateral aréflective mydriasis ODG, ocular motility preserved bilaterally, with normal FO in both eyes. An emergency CT scan of the brain reveals a giant intra-sellar pituitary adenoma and a hemorrhagic area in it’s center evoking a picture of pituitary apoplexy.

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A Vision-Saving Straw in a Retinitis Pigmentosa Patient

Case Reports in Ophthalmology ◽

10.1159/000512059 ◽

2021 ◽

pp. 684-689

Author(s):

Lijun Wang ◽

Jianqing Li ◽

Chi Ren ◽

Peirong Lu

Keyword(s):

Visual Acuity ◽

Retinitis Pigmentosa ◽

Optical Coherence Tomography Angiography ◽

Fundus Photography ◽

Light Perception ◽

Retinitis Pigmentosa Patient ◽

Blurred Vision ◽

Cone Cells ◽

Retinal Arterioles ◽

The Right

We report a case of binocular retinitis pigmentosa (RP) with completely different visual acuity between 2 eyes, which may be contributed by the presence of cilioretinal arteries (CRAs) in 1 eye. A 66-year-old female patient complained of blurred vision after binocular cataract surgeries. Examinations revealed her right eye had 20/25 central visual acuity, but the fellow eye only had light perception. Subsequent fundus photography of both eyes firmed the diagnosis of binocular RP. However, there were some significant differences in retinal vessels, which were attenuated in her left eye in contrast to several spared retinal arterioles in the right eye. Optical coherence tomography angiography showed that the spared vessels might be CRAs. Our case provides an evidence that macular blood flow may contribute to the survival of cone cells in RP.

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Intraorbital Wooden Foreign Body with Intracranial Extension : A Case Report

Ophthalmologica Indonesiana ◽

10.35749/journal.v44i1.155 ◽

2018 ◽

Vol 44 (1) ◽

pp. 4

Author(s):

Amanda N Shinta ◽

Purjanto Tepo Utomo ◽

Agus Supartoto

Keyword(s):

Visual Acuity ◽

Foreign Body ◽

Frontal Lobe ◽

Vital Sign ◽

Intracranial Extension ◽

Ocular Motility ◽

Light Perception ◽

Bone Segment ◽

Wooden Foreign Body ◽

Wooden Stick

Purpose : The aim of this study is to report a case of intraorbital wooden foreign body with intracranial extension to the frontal lobe and its management. Method : This is a descriptive study: A 53 year-old male referred due to wooden stick stucked in the orbital cavity causing protruding eyeball and vital sign instability. Result : Right eye examination revealed light perception visual acuity, with bad light projection and bad color perception, inwardly folded upper eyelid, proptosis, conjunctival chemosis, corneal erosion and edema, dilated pupil with sluggish pupillary light reflex and limited ocular movement in all direction. Vital sign was unstable with decreasing blood pressure, increasing temperature and heart rate. CT Scan showed complete fracture of the orbital roof due to penetration of the wooden stick, pneumoencephalus, cerebral edema and hematoma. Emergency craniotomy was performed to remove the penetrating wooden stick and bone segment in the frontal lobe and fracture repair. Ophthalmologist pulled the remaining stick, released the superior rectus muscle and repaired the lacerated eyelid. Outcome visual acuity was no light perception with lagophthalmos and limited ocular motility. Patient was admitted to Intensive Care Unit one day post-operatively and treated with systemic and topical antibiotic. Conclusion : Any case presenting with intraorbital foreign body must undergo immediate neuroimaging to exclude any intracranial extension, especially in patients with worsening general condition.

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