87,772 research outputs found
Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients
No full textBackground:
Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases. Pupillometry has been investigated in several diseases in order to provide objective information about the visual reflex pathway and has been adopted to quantify visual impairment in patients with Leber Congenital Amaurosis (LCA). In this paper, we describe detailed methods of pupillometric analysis and a case study on three Italian patients affected by Leber Congenital Amaurosis (LCA) involved in a gene therapy clinical trial at two follow-up time-points: 1 year and 3 years after therapy administration.
Methods:
Pupillary light reflexes (PLR) were measured in patients who had received a unilateral subretinal injection in a clinical gene therapy trial. Pupil images were recorded simultaneously in both eyes with a commercial pupillometer and related software. A program was generated with MATLAB software in order to enable enhanced pupil detection with revision of the acquired images (correcting aberrations due to the inability of these severely visually impaired patients to fixate), and computation of the pupillometric parameters for each stimulus. Pupil detection was performed through Hough Transform and a non-parametric paired statistical test was adopted for comparison.
Results:
The developed program provided correct pupil detection also for frames in which the pupil is not totally visible. Moreover, it provided an automatic computation of the pupillometric parameters for each stimulus and enabled semi-automatic revision of computerized detection, eliminating the need for the user to manually check frame by frame. With reference to the case study, the amplitude of pupillary constriction and the constriction velocity were increased in the right (treated eye) compared to the left (untreated) eye at both follow-up time-points, showing stability of the improved PLR in the treated eye.
Conclusions:
Our method streamlined the pupillometric analyses and allowed rapid statistical analysis of a range of parameters associated with PLR. The results confirm that pupillometry is a useful objective measure for the assessment of therapeutic effect of gene therapy in patients with LCA
U. Ellermann, M. Tietjens, & F. Thielbörger: Basiswissen Tanz. 2024
No full textCzyrnick-Leber U. U. Ellermann, M. Tietjens, & F. Thielbörger: Basiswissen Tanz. 2024. Leipziger Sportwissenschaftliche Beiträge . 2024;65(1):184-186
IE02a Acute Leber Optic Neuropathy
No full textAcute Leber Optic Neuropathy, Left eye. Same patient as IE_01 and IE_02b. August 7, 1979. Anatomy: Optic disc. Pathology: Optic neuropathy. Disease/ Diagnosis: Leber\u27s optic neuropathy. Clinical: Asymptomatic.Nikoskelainen E, Hoyt WF, Nummelin K Schatz H. Fundus findings in the Leber\u27s hereditary optic neuroretinopaty. III. Flourescein angiographic studies. Arch Opthalmol. 1984 Jul;102(7):981-9. PMID: 6743093 [PubMed - indexed for MEDLINE]. Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in the Leber\u27s hereditary optic neuropathy. II. The fundus findings in the affected family members. Arch Opthalmol. 1983 Feb;101(2):211-3. PMID 6870629 [PubMed - indexed for MEDLINE]. Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in the Leber\u27s hereditary optic neuropathy. I. The fundus findings in asymptomatic family members. Arch Opthalmol. 1982 Oct;100(10):1597-602. PMID 7138328 [PubMed - indexed for MEDLINE].IC-E2dii1-leber-hereditary-optic-neuropath
IE07 Subacute Leber Optic Neuropathy
No full textSubacute Leber\u27s optic neuropathy with microangiopathy. 1973. Anatomy: Optic disc. Pathology: Optic neuropathy. Disease/ Diagnosis: Leber\u27s optic neuropathy. Clinical: Early central vision loss
End Stage Leber Optic Neuropathy
No full textEnd stage Leber\u27s Optic Neuropathy. Severe diffuse pallor. Left eye. Pair with 15a. Anatomy: Optic disc. Pathology: Optic neuropathy. Disease/ Diagnosis: Leber\u27s optic neuropathy. Clinical: Blindness
IE01 Acute Leber Optic Neuropathy
No full textPseudo edema with peripapillary microangiopathy in a brother of boy with Leber Optic Neuropathy. Not pale nerve yet. Right eye. Same patient as IE_02a and IE_02b. August 7, 1979. Anatomy: Optic disc. Pathology: Optic neuropathy. Disease/ Diagnosis: Optic neuropathy. Clinical: AsymptomaticNikoskelainen E, Hoyt WF, Nummelin K Schatz H. Fundus findings in the Leber\u27s hereditary optic neuroretinopaty. III. Flourescein angiographic studies. Arch Opthalmol. 1984 Jul;102(7):981-9. PMID: 6743093 [PubMed - indexed for MEDLINE]. Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in the Leber\u27s hereditary optic neuropathy. II. The fundus findings in the affected family members. Arch Opthalmol. 1983 Feb;101(2):211-3. PMID 6870629 [PubMed - indexed for MEDLINE]. Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in the Leber\u27s hereditary optic neuropathy. I. The fundus findings in asymptomatic family members. Arch Opthalmol. 1982 Oct;100(10):1597-602. PMID 7138328 [PubMed - indexed for MEDLINE].curriculum_fellow; IC-E2dii1-leber-hereditary-optic-neuropath
IE10b Subacute Leber Optic Neuropathy
No full textSubacute Leber\u27s Optic Neuropathy, August 8, 1969, Left eye, pair with IE_10a, c. Anatomy: Optic disc. Pathology: Optic neuropathy. Disease/ Diagnosis: Leber\u27s optic neuropathy. Clinical: Blindness
IE10a Chronic Leber Optic Neuropathy
No full textChronic Leber\u27s Optic Neuropathy, August 8, 1969. Anatomy: Optic disc. Pathology: Optic neuropathy. Disease/ Diagnosis: Leber\u27s optic neuropathy. Clinical: Blindness
IE11 Subacute Leber Optic Neuropathy
No full textSubacute Leber\u27s Optic Neuropathy with distinct temporal wedge pallor and adjacent microangiopathy. 1973. Anatomy: Optic disc. Pathology: Optic neuropathy. Disease/ Diagnosis: Leber\u27s optic neuropathy. Clinical: Blindness
IE05 Acute Leber Optic Neuropathy
No full textPatient has just begun to lose vision in his left eye due to Leber\u27s optic neuropathy. Pair with IE_04. Anatomy: Optic disc. Pathology: Optic neuropathy. Disease/ Diagnosis: Leber\u27s optic neuropathy. Clinical: Central vision loss
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