ABSTRACT
CASE HISTORY: An 8-month-old male, entire, mixed-breed dog was presented with a 1-month history of left exophthalmos and green mucopurulent ocular discharge. Subsequently, exophthalmos resolved but esotropia (medial strabismus) developed in the left eye, prompting referral to an ophthalmologist. CLINICAL FINDINGS: At the initial referral consultation, enophthalmos and esotropia of the left eye were identified. The patient showed mild improvement after a 3-week tapering course of oral prednisolone and doxycycline. MRI was performed and showed left medial rectus muscle atrophy with increased contrast enhancement which was consistent with chronic extraocular muscle myositis (EOM). A forced duction test was performed to confirm the diagnosis of fibrosing esotropia, which is likely a sequela of chronic EOM. DIAGNOSIS: Fibrosing esotropia presumably caused by untreated EOM. TREATMENT AND OUTCOME: One month later, esotropia progressed to a marked ventro-medial strabismus resulting in visual deprivation. Surgical release of the ventral oblique, medial and ventral recti muscles was performed, resulting in immediate resolution of the enophthalmos. Despite a tapering post-operative course of oral prednisolone, mild esotropia was present 4 weeks later. In an effort to stabilise the globe position, the low dose of prednisolone was increased to a higher anti-inflammatory dose before slowly tapering over 2 months. The vision in the left eye was improved after surgery and has been maintained since without further treatment. CLINICAL RELEVANCE: This is the first documented case of fibrosing esotropia in a young dog with prior signs of acute exophthalmos. Fibrosing esotropia has been documented in certain breeds or as a sequela to chronic EOM. In this patient, it was presumably caused by EOM, which was strongly supported by the case history, progression and MRI findings. Most historical reports of EOM described it as a bilateral condition that resolves with systemic corticosteroids at an anti-inflammatory dose. EOM has been shown to also present unilaterally and it can progress to strabismus if not promptly recognised and treated with systemic steroids. Surgical management can restore vision when severe strabismus results in visual deprivation.
ABSTRACT
One nucleotide substitution at residue 332 of HLA-DRB1*09:01:02 results in a novel allele, HLA-DRB1*09:28.
Subject(s)
Alleles , Exons , HLA-DRB1 Chains/genetics , Polymorphism, Single Nucleotide , Unrelated Donors , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , Codon/chemistry , Gene Expression , HLA-DRB1 Chains/immunology , Haplotypes , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Polymerase Chain Reaction , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
One nucleotide substitution at residue 112 of the HLA-DRB1*16:02:01:01 results in a novel allele, HLA-DRB1*16:39.
Subject(s)
Alleles , Exons , HLA-DRB1 Chains/genetics , Polymorphism, Single Nucleotide , Unrelated Donors , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , Codon/chemistry , Gene Expression , HLA-DRB1 Chains/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Polymerase Chain Reaction , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
One nucleotide substitution at residue 133 of HLA-B*58:01:01:01 results in a novel allele, HLA-B*58:80.
Subject(s)
Alleles , Exons , HLA-B Antigens/genetics , Polymorphism, Single Nucleotide , Unrelated Donors , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , Codon/chemistry , Gene Expression , HLA-B Antigens/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Polymerase Chain Reaction , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
One nucleotide substitution at residue 346 of HLA-B*38:02:01 results in a novel allele, HLA-B*38:15.
Subject(s)
Alleles , Exons , HLA-B38 Antigen/genetics , Polymorphism, Single Nucleotide , Tissue Donors , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , Codon/chemistry , Gene Expression , Genotype , HLA-B38 Antigen/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Polymerase Chain Reaction , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
One nucleotide substitution at residue 484 of HLA-A*11:01:01:01 results in a novel allele, HLA-A*11:196.
Subject(s)
Alleles , Exons , HLA-A11 Antigen/genetics , Point Mutation , Unrelated Donors , Amino Acid Substitution , Base Sequence , Cloning, Molecular , Gene Expression , Genotype , HLA-A11 Antigen/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
Nucleotide deletions from residue 120 to 125 of HLA-A*11:01:01:01 result in a novel allele, HLA-A*11:235Q.
Subject(s)
Alleles , Base Sequence , Exons , HLA-A11 Antigen/genetics , Sequence Deletion , Unrelated Donors , Codon/chemistry , Genotype , HLA-A11 Antigen/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
One nucleotide substitution of HLA-A*33:03:01 results in a novel allele, HLA-A*33:03:31.
Subject(s)
Alleles , Exons , HLA-A Antigens/genetics , Point Mutation , Unrelated Donors , Base Sequence , Codon/chemistry , Genotype , HLA-A Antigens/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
Two nucleotide replacements in codon 138 of the HLA-C*07:341:01 result in a novel allele, HLA-C*07:341:02.
Subject(s)
Alleles , Exons , HLA-C Antigens/genetics , Mutation , Unrelated Donors , Base Sequence , Codon/chemistry , HLA-C Antigens/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing/methods , Humans , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
One nucleotide exchange at residue 550 of the HLA-B*46:65 results in a novel allele, HLA-B*46:65.
Subject(s)
Alleles , Bone Marrow Cells/cytology , Genetic Variation , HLA-B Antigens/genetics , Stem Cells/cytology , Tissue Donors , Base Sequence , Exons/genetics , Histocompatibility Testing , Humans , TaiwanABSTRACT
One nucleotide exchange at residue 812 of the HLA-C*07:02:01:01 results in a novel allele, HLA-C*07:486.
Subject(s)
Alleles , Genetic Variation , HLA-C Antigens/genetics , Base Sequence , Exons/genetics , Humans , TaiwanABSTRACT
Four nucleotide replacements of HLA-A*24:02:01:01 result in a novel allele, HLA-A*24:333.
Subject(s)
Alleles , Exons , HLA-A24 Antigen/genetics , Point Mutation , Unrelated Donors , Amino Acid Substitution , Base Sequence , Codon/chemistry , Genotype , HLA-A24 Antigen/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Sequence Alignment , Sequence Analysis, DNA , TaiwanABSTRACT
Recombination may result in the formation of HLA-DRB1*04:207.
Subject(s)
Alleles , Genetic Variation , HLA-DRB1 Chains/genetics , Hematopoietic Stem Cells/metabolism , Tissue Donors , Base Sequence , Exons/genetics , Humans , TaiwanABSTRACT
One nucleotide substitution at residue 204 of the HLA-A*02:01:01:01 results in a new allele, HLA-A*02:610.
Subject(s)
Genetic Variation , HLA-A Antigens/genetics , Base Sequence , Exons/genetics , Humans , TaiwanABSTRACT
One nucleotide substitution at residue 506 of HLA-B*58:01:01:01 results in a novel allele, HLA-B*58:77.
Subject(s)
Alleles , Blood Donors , Genetic Variation , HLA-B Antigens/genetics , Base Sequence , Exons/genetics , Humans , TaiwanABSTRACT
One nucleotide replacement at residue 587 of HLA-A*24:02:01:01 results in a novel allele, HLA-A*24:334.
Subject(s)
Genetic Variation , HLA-A24 Antigen/genetics , Alleles , Base Sequence , Exons/genetics , Humans , TaiwanABSTRACT
One nucleotide substitution at residue 421 of HLA-B*35:01:01:01 results in a novel allele, HLA-B*35:307.
Subject(s)
Alleles , Exons , HLA-B35 Antigen/genetics , Point Mutation , Amino Acid Substitution , Base Sequence , Bone Marrow Transplantation , Codon , Genotype , HLA-B35 Antigen/immunology , Histocompatibility Testing , Humans , Sequence Alignment , Sequence Analysis, DNA , Taiwan , Unrelated DonorsABSTRACT
One nucleotide substitution at residue 448 of HLA-B*55:02:01:01 results in a novel allele, HLA-B*55:02:10.
Subject(s)
Alleles , Exons , HLA-B Antigens/genetics , Point Mutation , Base Sequence , Bone Marrow Transplantation , Codon , Genotype , HLA-B Antigens/immunology , Histocompatibility Testing , Humans , Sequence Alignment , Sequence Analysis, DNA , Taiwan , Unrelated DonorsABSTRACT
One nucleotide replacement at residue 147 of HLA-B*40:01:01 results in a new allele, HLA-B*40:01:44.
Subject(s)
Alleles , Exons , HLA-B40 Antigen/genetics , Point Mutation , Base Sequence , Bone Marrow Transplantation , Codon , Genotype , HLA-B40 Antigen/immunology , Histocompatibility Testing , Humans , Sequence Alignment , Sequence Analysis, DNA , Taiwan , Unrelated DonorsABSTRACT
One nucleotide substitution at residue 220 of HLA-B*40:01:01 results in a new allele, HLA-B*40:327.